Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.A206Splc
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ACTA2

NM_001613.4:p.A206Splc

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

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

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).

Disabella E et al.

Heart (british Cardiac Society), 2011

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

Morisaki H et al.

Human Mutation, 2009

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.

Yuan SM

Brazilian Journal of Cardiovascular Surgery, 0

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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."