Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.V45L
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ACTA2

NM_001613.4:p.V45L

Associated Papers

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

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

Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.

Alajbegovic A et al.

Frontiers in Physiology, 2017

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

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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."