Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.N254H
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ACTA1

NM_001100.4:p.N254H

Associated Papers

OXPHOS complex deficiency in congenital myopathy: A systematic review.

du Preez MJ et al.

European Journal of Clinical Investigation, 2025

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

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )
Supplement: 6496088.f1.docx

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.

Pula S et al.

Neuromuscular Disorders : Nmd, 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."