Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.E255K
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ACTA2

NM_001613.4:p.E255K

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

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.

Asokan KL et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."