Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.A179T
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CHD7

NM_017780.4:p.A179T

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

D'Alessandro LC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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