Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L620P
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MYH7

NM_000257.4:p.L620P

Associated Papers

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure.

Hirono K et al.

Journal of Clinical Medicine, 2020

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

Hershkovitz T et al.

American Journal of Medical Genetics. Part A, 2019

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

Wang C et al.

Journal of the American Heart Association, 2017

28855170 (PubMed )
Supplement: JAH3-6-e006210-s001.pdf

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

28356264 (PubMed )
Supplement: circgenetics_circcvg-2016-001584_supp1.pdf

Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?

Lorca R et al.

International Journal of Cardiology, 2015

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Gómez J et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

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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."