Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q163P
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MYH7

NM_000257.4:p.Q163P

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Sicko RJ et al.

Plos One, 2016

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Bainbridge MN et al.

Circulation. Cardiovascular Genetics, 2015

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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."