Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1779P
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MYH7

NM_000257.4:p.L1779P

Associated Papers

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

Viswanathan MC et al.

Genetics, 2025

Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Viswanathan MC et al.

Human Molecular Genetics, 2017

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Yüceyar N et al.

Neuromuscular Disorders : Nmd, 2015

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ et al.

Human Mutation, 2014

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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."