Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majority of cases remains uncertain. It is clear that...

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發表在:Hum Mol Genet
Main Authors: Chapman, Gavin, Moreau, Julie L M, I P, Eddie, Szot, Justin O, Iyer, Kavitha R, Shi, Hongjun, Yam, Michelle X, O’Reilly, Victoria C, Enriquez, Annabelle, Greasby, Joelene A, Alankarage, Dimuthu, Martin, Ella M M A, Hanna, Bernadette C, Edwards, Matthew, Monger, Steven, Blue, Gillian M, Winlaw, David S, Ritchie, Helen E, Grieve, Stuart M, Giannoulatou, Eleni, Sparrow, Duncan B, Dunwoodie, Sally L
格式: Artigo
語言:Inglês
出版: Oxford University Press 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7068028/
https://ncbi.nlm.nih.gov/pubmed/31813956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz270
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