Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.V249I
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ACTA1

NM_001100.4:p.V249I

Associated Papers

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.

Haidong L et al.

Acta Neurologica Belgica, 2024

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

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )
Supplement: 6496088.f4.xlsx › 4.4_gnomAD_all
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