Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC2
Variant:p.V307A
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MYBPC2

NM_004533.4:p.V307A

Associated Papers

Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.

Song T et al.

Experimental & Molecular Medicine, 2023

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Desai D et al.

Frontiers in Physiology, 2020

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

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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."