Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.D181delFs
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ACTA1

NM_001100.4:p.D181delFs

Associated Papers

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Pérez-Vidarte F et al.

Annals of Clinical and Translational Neurology, 2025

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

Clayton JS et al.

Human Mutation, 2024

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ et al.

Annals of Neurology, 2007

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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."