Varaico: Literature-Extracted Genetic Variants

Gene:MYLK
Variant:p.R1480*
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MYLK

NM_053025.4:p.R1480*

Associated Papers

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Wallace SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.

Shalata A et al.

Orphanet Journal of Rare Diseases, 2018

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Hannuksela M et al.

Bmc Medical Genetics, 2016

The genetic basis for aortic aneurysmal disease.

Saratzis A et al.

Heart (british Cardiac Society), 2014

Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.

Zhang P et al.

Frontiers in Bioscience (landmark Edition), 2013

Mutations in myosin light chain kinase cause familial aortic dissections.

Wang L et al.

American Journal of Human Genetics, 2010

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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."