Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L390P
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MYH7

NM_000257.4:p.L390P

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

MYH7 variants cause complex congenital heart disease.

Ritter A et al.

American Journal of Medical Genetics. Part A, 2022

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

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.

Vermeer AM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Heavy and light roles: myosin in the morphogenesis of the heart.

England J et al.

Cellular and Molecular Life Sciences : Cmls, 2013

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.

van Engelen K et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2013

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Postma AV et al.

Circulation. Cardiovascular Genetics, 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."