Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.G304D
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ACTA1

NM_001100.4:p.G304D

Associated Papers

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

Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Zhu Y et al.

Nature Communications, 2018

29500430 (PubMed )
Supplement: 41467_2018_3311_MOESM5_ESM.xlsx › SAAVs_and_orthogonal_evidence
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