Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.E500*
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MYH2

NM_017534.6:p.E500*

Associated Papers

Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.

Sonne A et al.

American Journal of Physiology. Cell Physiology, 2023

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.

Madigan NN et al.

Acta Neuropathologica Communications, 2021

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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."