Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.L1388L
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MYH6

NM_002471.4:p.L1388L

Associated Papers

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Granados-Riveron JT et al.

Human Molecular Genetics, 2010

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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."