Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.D82E
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ACTA2

NM_001613.4:p.D82E

Associated Papers

New mutation in the ACTA2 gene (p.Met84Val) in a family with nonsyndromic familial aortic aneurysms.

Roque Rodríguez B et al.

Revista Espanola De Cardiologia (english Ed.), 2020

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

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

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."