Varaico: Literature-Extracted Genetic Variants

Gene:WWTR1
Variant:p.Y118H
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WWTR1

NM_015472.6:p.Y118H

Associated Papers

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

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.

Xia S et al.

Internal Medicine (tokyo, Japan), 2008

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology.

Zaragoza MV et al.

Current Opinion in Pediatrics, 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."