Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.S234F
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ACTC1

NM_005159.5:p.S234F

Associated Papers

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

41469780 (PubMed )
Supplement: 41598_2025_33901_MOESM8_ESM.xlsx › TableS1

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
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