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10.1101/cshperspect.a013953

http://scihub22266oqcxt.onion/10.1101/cshperspect.a013953
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C4066638!4066638 !24985128
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suck abstract from ncbi


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pmid24985128
      Cold+Spring+Harb+Perspect+Med 2014 ; 4 (7 ): a013953
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  • Complex genetics and the etiology of human congenital heart disease #MMPMID24985128
  • Gelb BD ; Chung WK
  • Cold Spring Harb Perspect Med 2014[Jul]; 4 (7 ): a013953 PMID24985128 show ga
  • Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD, but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Mainly because of recent advances in genomic technology such as next-generation DNA sequencing, scientists have begun to identify the genetic variants underlying CHD. In this article, the roles of modifier genes, de novo mutations, copy number variants, common variants, and noncoding mutations in the pathogenesis of CHD are reviewed.
  • |DNA Copy Number Variations/genetics [MESH]
  • |Genes, Modifier/genetics [MESH]
  • |Genome-Wide Association Study [MESH]
  • |Heart Defects, Congenital/*genetics [MESH]
  • |Humans [MESH]


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