Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.E59K
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ACTA2

NM_001613.4:p.E59K

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

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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."