Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.A1327V
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MYH6

NM_002471.4:p.A1327V

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

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

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC et al.

Nature Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."