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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

BACKGROUND: Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic C...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Sevim Bayrak, Cigdem, Zhang, Peng, Tristani-Firouzi, Martin, Gelb, Bruce D., Itan, Yuval
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961332/
https://ncbi.nlm.nih.gov/pubmed/31941532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0709-8
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