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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Detalles Bibliográficos
Autores principales: Sevim Bayrak, Cigdem, Zhang, Peng, Tristani-Firouzi, Martin, Gelb, Bruce D., Itan, Yuval
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961332/
https://www.ncbi.nlm.nih.gov/pubmed/31941532
http://dx.doi.org/10.1186/s13073-019-0709-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961332/
https://www.ncbi.nlm.nih.gov/pubmed/31941532
http://dx.doi.org/10.1186/s13073-019-0709-8

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