<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132022000500293</article-id>
<article-id pub-id-type="doi">10.24875/gmm.22000037</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Nueva mutación en el gen TSC2 protege contra el cáncer colorrectal en población mexicana]]></article-title>
<article-title xml:lang="en"><![CDATA[A novel mutation in the TSC2 gene protects against colorectal cancer in the Mexican population]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Villaseñor]]></surname>
<given-names><![CDATA[Christian O.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Guerrero]]></surname>
<given-names><![CDATA[Angélica A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moreno-Ortiz]]></surname>
<given-names><![CDATA[José M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leal-Ugarte]]></surname>
<given-names><![CDATA[Evelia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peralta-Leal]]></surname>
<given-names><![CDATA[Valeria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Macías-Gómez]]></surname>
<given-names><![CDATA[Nelly M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Guadalajara Centro Universitario del Sur Laboratorio de Genética Humana]]></institution>
<addr-line><![CDATA[Guadalajara Tamaulipas]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Guadalajara Centro Universitario de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[Guadalajara Jalisco]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Autónoma de Tamaulipas Facultad de Medicina e Ingeniería en Sistemas Computacionales de Matamoros ]]></institution>
<addr-line><![CDATA[Guadalajara Tamaulipas]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<volume>158</volume>
<numero>5</numero>
<fpage>293</fpage>
<lpage>298</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132022000500293&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132022000500293&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132022000500293&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El cáncer colorrectal (CCR) es una enfermedad compleja debido al gran número de factores que influyen en su desarrollo, incluyendo variantes en genes supresores de tumores.  Objetivo: Estimar las frecuencias alélicas y genotípicas de las variantes c.3915G&gt;A y c.5371G&gt;A del gen TSC2 en una población mexicana con CCR, así como analizar la asociación con el desarrollo de CCR.  Métodos: Se incluyeron 126 muestras de sangre periférica de pacientes con diagnóstico de CCR esporádico y 134 de individuos sanos, considerados como grupo de control. La identificación de los genotipos se llevó a cabo mediante PCR tradicional y digestión enzimática. Todos los individuos firmaron una carta de consentimiento informado.  Resultados: El alelo A de la variante c.3915G&gt;A (RM = 0.31, IC 95 % = 0.15-0.69, p = 0.004), así como el haplotipo A/G de las variantes c.3915G&gt;A y c.5371G&gt;A (RM = 0.28, IC 95 % = 0.12-0.68, p = 0.005) mostraron un posible efecto protector contra CCR esporádico. El análisis in silico indicó que ambas variantes generan modificaciones en el proceso de corte y empalme.  Conclusión: La presencia de la variante c.3915G&gt;A del gen TSC2 sugiere un posible efecto protector contra CCR esporádico en población mexicana; sin embargo, no se observó esta asociación con la variante c.5371G&gt;A.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Colorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes.  Objective: To estimate allelic and genotypic frequencies of c.3915G&gt;A and c.5371G&gt;A variants of the TSC2 gene in a Mexican population with CRC, as well as to analyze their association with the development of CRC.  Methods: 126 peripheral blood samples from patients diagnosed with sporadic CRC and 134 from healthy individuals, regarded as the control group, were included. Identification of genotypes was carried out using traditional PCR and enzymatic digestion. All individuals signed an informed consent letter.  Results: The A allele of the c.3915G&gt;A variant (OR = 0.31, 95% CI = 0.15-0.69, p = 0.004), as well as A/G haplotype of the c.3915G&gt;A and c.5371G&gt;A variants (OR = 0.28, 95% CI = 0.12-0.68, p = 0.005) showed a possible protective effect against sporadic CRC. In silico analysis indicated that both variants generate modifications in the splicing process.  Conclusion: The presence of TSC2 gene c.3915G&gt;A variant suggests a possible protective effect against sporadic CRC in the Mexican population; however, no association was observed with the c.5371G&gt;A variant.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Cáncer colorrectal]]></kwd>
<kwd lng="es"><![CDATA[Complejo esclerosis tuberosa 2]]></kwd>
<kwd lng="es"><![CDATA[Gen TSC2]]></kwd>
<kwd lng="es"><![CDATA[Genes supresores de tumores]]></kwd>
<kwd lng="en"><![CDATA[Colorectal cancer]]></kwd>
<kwd lng="en"><![CDATA[Tuberous sclerosis complex 2]]></kwd>
<kwd lng="en"><![CDATA[TSC2 gene]]></kwd>
<kwd lng="en"><![CDATA[Tumor suppressor genes]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kuipers]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<name>
<surname><![CDATA[Grady]]></surname>
<given-names><![CDATA[WM]]></given-names>
</name>
<name>
<surname><![CDATA[Lieberman]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Seufferlein]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Sung]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Boelens]]></surname>
<given-names><![CDATA[PG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Colorectal cancer]]></article-title>
<source><![CDATA[Nat Rev Dis Primers]]></source>
<year>2015</year>
<volume>1</volume>
<page-range>15065</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sung]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Ferlay]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Siegel]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Laversanne]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Soerjomataram]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Jemal]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Global Cancer Statistics 2020:GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries]]></article-title>
<source><![CDATA[CA Cancer J Clin]]></source>
<year>2021</year>
<volume>71</volume>
<page-range>209-49</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vogelstein]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Fearon]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Hamilton]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kern]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Preisinger]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Leppert]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic alterations during colorectal-tumor development]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>1988</year>
<volume>319</volume>
<page-range>525-32</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dibble]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Cantley]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Regulation of mTORC1 by PI3K signaling]]></article-title>
<source><![CDATA[Trends Cell Biol]]></source>
<year>2015</year>
<volume>25</volume>
<page-range>545-55</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stelzer]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Rosen]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Plaschkes]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Zimmerman]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Twik]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Fishilevich]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The genecards suite:From Gene Data Mining to disease genome sequence analyses]]></article-title>
<source><![CDATA[Curr Protoc Bioinformatics]]></source>
<year>2016</year>
<volume>54</volume>
<page-range>1</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Sterner]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Maheshwar]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Wilson]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Nellist]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Short]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues]]></article-title>
<source><![CDATA[Genomics]]></source>
<year>1995</year>
<volume>27</volume>
<page-range>475-80</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Cornejo]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Sadow]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Cheng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Xiao]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Renal cell carcinoma in tuberous sclerosis complex]]></article-title>
<source><![CDATA[Am J Surg Pathol]]></source>
<year>2014</year>
<volume>38</volume>
<page-range>895-909</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ho]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Chan]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Chiu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Poon]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Cheung]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[TSC1/2mutations define a molecular subset of HCC with aggressive behaviour and treatment implication]]></article-title>
<source><![CDATA[Gut]]></source>
<year>2016</year>
<volume>66</volume>
<page-range>1496-506</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tate]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Bamford]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Jubb]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Sondka]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Beare]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Bindal]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[COSMIC:the catalogue of somatic mutations in cancer]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2019</year>
<volume>47</volume>
<page-range>D941-7</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Howe]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Achuthan]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Allen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Allen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Álvarez-Jarreta]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Amode]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ensembl 2021]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2020</year>
<volume>49</volume>
<page-range>D884-91</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miller]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Dykes]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Polesky]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A simple salting out procedure for extracting DNA from human nucleated cells]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>1988</year>
<volume>16</volume>
<page-range>1215</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ye]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Coulouris]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Zaretskaya]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Cutcutache]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Rozen]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Madden]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primer-BLAST:a tool to design target-specific primers for polymerase chain reaction]]></article-title>
<source><![CDATA[BMC Bioinformatics]]></source>
<year>2012</year>
<volume>13</volume>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vincze]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Posfai]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Roberts]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[NEBcutter:a program to cleave DNA with restriction enzymes]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2003</year>
<volume>31</volume>
<page-range>3688-91</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Excoffier]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Lischer]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Arlequin suite ver 3.5:a new series of programs to perform population genetics analyses under Linux and Windows]]></article-title>
<source><![CDATA[Mol Ecol Resour]]></source>
<year>2010</year>
<volume>10</volume>
<page-range>564-7</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Desmet]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Hamroun]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Lalande]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Collod-Béroud]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Claustres]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Béroud]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Human Splicing Finder:an online bioinformatics tool to predict splicing signals]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2009</year>
<volume>37</volume>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Salido-Vallejo]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Garnacho-Saucedo]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Vélez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bases moleculares y aplicaciones farmacológicas de la vía de mTOR en dermatología]]></article-title>
<source><![CDATA[Act Dermo Sifiliogr]]></source>
<year>2016</year>
<volume>107</volume>
<page-range>379-90</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bryc]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Velez]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Karafet]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Moreno-Estrada]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Reynolds]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Auton]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Colloquium paper:genome-wide patterns of population structure and admixture among Hispanic/Latino populations]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>2010</year>
<volume>107</volume>
<page-range>8954-61</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="book">
<collab>Instituto Nacional de Estadística y Geografía</collab>
<source><![CDATA[Censo de población y vivienda 2020]]></source>
<year>2020</year>
<publisher-loc><![CDATA[México ]]></publisher-loc>
<publisher-name><![CDATA[Instituto Nacional de Estadística y Geografía]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sherry]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ward]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kholodov]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Baker]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Phan]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Smigielski]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[dbSNP:the NCBI database of genetic variation]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2001</year>
<volume>29</volume>
<page-range>308-11</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<collab>The International HapMap Consortium</collab>
<article-title xml:lang=""><![CDATA[The International HapMap Project]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2003</year>
<volume>426</volume>
<page-range>789-96</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Auton]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Abecasis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Altshuler]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Durbin]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Abecasis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Bentley]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A global reference for human genetic variation]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2015</year>
<volume>526</volume>
<page-range>68-74</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Landrum]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Benson]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Brown]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Chao]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Chitipiralla]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ClinVar:improving access to variant interpretations and supporting evidence]]></article-title>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>2017</year>
<volume>46</volume>
<page-range>D1062-7</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mort]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Sterne-Weiler]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Ball]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Radivojac]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MutPred Splice:machine learning-based prediction of exonic variants that disrupt splicing]]></article-title>
<source><![CDATA[Genome Biol]]></source>
<year>2014</year>
<volume>15</volume>
<page-range>R19</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Goren]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ram]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Amit]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Keren]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Lev-Maor]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Vig]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Comparative analysis identifies exonic splicing regulatory sequences&#8212;The complex definition of enhancers and silencers]]></article-title>
<source><![CDATA[Mol Cell]]></source>
<year>2006</year>
<volume>22</volume>
<page-range>769-81</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cai]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Pacheco-Rodríguez]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Fan]]></surname>
<given-names><![CDATA[Q-Y]]></given-names>
</name>
<name>
<surname><![CDATA[Haughey]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Samsel]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[El-Chemaly]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis]]></article-title>
<source><![CDATA[Am J Respir Crit Care Med]]></source>
<year>2010</year>
<volume>182</volume>
<page-range>1410-8</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Berger]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hodis]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Heffernan]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Deribe]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lawrence]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Protopopov]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Melanoma genome sequencing reveals frequent PREX2 mutations]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2012</year>
<volume>485</volume>
<page-range>502-6</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
