Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.F252L
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MYH7

NM_000257.4:p.F252L

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 large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.

Chang B et al.

Molecular Genetics and Metabolism, 2011

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Dellefave LM et al.

Circulation. Cardiovascular Genetics, 2009

Sarcomere mutations in cardiogenesis and ventricular noncompaction.

McNally E et al.

Trends in Cardiovascular Medicine, 2009

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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."