Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.R246H
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MYH2

NM_017534.6:p.R246H

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

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

Madigan NN et al.

Acta Neuropathologica Communications, 2021

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Telese R et al.

Molecular Genetics & Genomic Medicine, 2020

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Findlay AR et al.

Neuromuscular Disorders : Nmd, 2018

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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."