Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.R1275L
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MYH11

NM_002474.3:p.R1275L

Associated Papers

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X et al.

Bmc Medical Genomics, 2024

A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.

Pan M et al.

Forensic Science, Medicine, and Pathology, 2024

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

The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.

Zhang L et al.

Clinical Genetics, 2016

Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish.

Abrams J et al.

Disease Models & Mechanisms, 2016

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Gauthier J et al.

European Journal of Human Genetics : Ejhg, 2015

A deleterious MYH11 mutation causing familial thoracic aortic dissection.

Takeda N et al.

Human Genome Variation, 2015

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

Zhang P et al.

Frontiers in Bioscience (landmark Edition), 2013

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.

Pannu H et al.

Human Molecular Genetics, 2007

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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."