Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.M49T
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ACTA2

NM_001613.4:p.M49T

Associated Papers

A novel ACTA2 variant in sudden fatal familial thoracic aortic dissection: literature review and genotype-phenotype expansion.

Lihua L et al.

Legal Medicine (tokyo, Japan), 2026

Dysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated aortopathy.

Pepin ME et al.

American Journal of Physiology. Heart and Circulatory Physiology, 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."