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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Medical Genetics Summaries [Internet]" /><meta name="citation_title" content="Genetic variants and disease" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="2012" /><meta name="citation_author" content="Victoria M. Pratt" /><meta name="citation_author" content="Stuart A. Scott" /><meta name="citation_author" content="Munir Pirmohamed" /><meta name="citation_author" content="Bernard Esquivel" /><meta name="citation_author" content="Brandi L. Kattman" /><meta name="citation_author" content="Adriana J. Malheiro" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK109192/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Genetic variants and disease" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="Victoria M. Pratt" /><meta name="DC.Contributor" content="Stuart A. Scott" /><meta name="DC.Contributor" content="Munir Pirmohamed" /><meta name="DC.Contributor" content="Bernard Esquivel" /><meta name="DC.Contributor" content="Brandi L. Kattman" /><meta name="DC.Contributor" content="Adriana J. Malheiro" /><meta name="DC.Date" content="2012" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK109192/" /><meta name="og:title" content="Genetic variants and disease" /><meta name="og:type" content="book" /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK109192/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gtrbook-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gtrbook/part2/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK109192/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK109192_"><span class="title" itemprop="name">Genetic variants and disease</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><ul class="simple-list"><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/abo/">ABO Blood Group</a></li><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/achoo/">ACHOO Syndrome</a></li><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/mccunealbright/">McCune-Albright Syndrome</a></li><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/mthfr/">Methylenetetrahydrofolate Reductase Deficiency</a></li><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/pitthopkins/">Pitt-Hopkins Syndrome</a></li><li class="half_rhythm"><a class="toc-item" href="/books/n/gtrbook/schizophrenia/">Schizophrenia</a></li></ul><div id="bk_toc_contnr"></div></div></div>
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