Varaico: Literature-Extracted Genetic Variants

Gene:MYH1
Variant:p.K432T
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MYH1

NM_005963.4:p.K432T

Associated Papers

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.

Uctepe E et al.

American Journal of Medical Genetics. Part A, 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Recent advances in our understanding of genetic rhabdomyolysis.

Cabrera-Serrano M et al.

Current Opinion in Neurology, 2022

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

Alsaif HS et al.

American Journal of Medical Genetics. Part A, 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."