Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.G48V
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ACTA2

NM_001613.4:p.G48V

Associated Papers

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf

Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.

Milewicz DM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC et al.

American Journal of Human Genetics, 2015

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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."