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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| 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 |