Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.G15A
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ACTA1

NM_001100.4:p.G15A

Associated Papers

Pathologic Variability Associated With Phenotypic Differences in Siblings With ACTA1 Myopathy.

Kiss R et al.

Muscle & Nerve, 2026

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 › 2.0_Final_variants

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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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."