Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.A116P
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ACTA1

NM_001100.4:p.A116P

Associated Papers

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

de Feraudy Y et al.

Genome Medicine, 2024

38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2

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

Asymmetric muscle weakness due to ACTA1 mosaic mutations.

Lornage X et al.

Neurology, 2020

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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."