Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.Q139Q
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ACTA2

NM_001613.4:p.Q139Q

Associated Papers

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

Guo DC et al.

American Journal of Human Genetics, 2009

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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."