Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.R208C
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ACTA2

NM_001613.4:p.R208C

Associated Papers

ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.

Boerio ML et al.

Circulation. Genomic and Precision Medicine, 2026

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Chen MH et al.

Journal of the American Heart Association, 2024

38958128 (PubMed )
Supplement: JAH3-13-e033232-s001.pdf
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