Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.R783*
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MYH2

NM_017534.6:p.R783*

Associated Papers

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Labella B et al.

Journal of Neuromuscular Diseases, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Willis T et al.

Journal of Neurology, 2016

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H et al.

Brain : a Journal of Neurology, 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."