Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.M271V
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ACTA1

NM_001100.4:p.M271V

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.

Kao JC et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 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."