Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.T108M
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ACTA2

NM_001613.4:p.T108M

Associated Papers

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G et al.

Journal of the American Heart Association, 2018

30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf

TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Bee KJ et al.

Circulation. Cardiovascular Genetics, 2012

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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."