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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

BACKGROUND: Congenital heart disease (CHD) is the most common type of birth defect with family and population based studies supporting a strong genetic etiology for CHD. The goal of this study was to determine if a whole exome sequencing (WES) approach could identify pathogenic segregating variants...

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Bibliografski detalji
Izdano u:Circ Cardiovasc Genet
Glavni autori: LaHaye, Stephanie, Corsmeier, Don, Basu, Madhumita, Bowman, Jessica L., Fitzgerald-Butt, Sara, Zender, Gloria, Bosse, Kevin, McBride, Kim L., White, Peter, Garg, Vidu
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412122/
https://ncbi.nlm.nih.gov/pubmed/27418595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001324
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