Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E935K
Back to variants list

MYH7

NM_000257.4:p.E935K

Associated Papers

Unveiling Clinical and Genetic Distinctions in Pure-Apical Versus Distal-Dominant Apical Hypertrophic Cardiomyopathy.

Sugiura K et al.

Journal of the American Heart Association, 2025

40055852 (PubMed )
Supplement: JAH3-14-e038208-s001.pdf

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.

Kim OH et al.

Bmc Medical Genomics, 2024

39237976 (PubMed )
Supplement: 12920_2024_2000_MOESM1_ESM.docx

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5

Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.

Serra W et al.

Heliyon, 2022

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

Moriki T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2021

Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.

Nakashima Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.

Teramoto R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 2017

Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.

Fourey D et al.

Circulation. Cardiovascular Genetics, 2017

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.

Kadota C et al.

Journal of Human Genetics, 2015

Structural implications of β-cardiac myosin heavy chain mutations in human disease.

Colegrave M et al.

Anatomical Record (hoboken, N.j. : 2007), 2014

Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.

Funada A et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2010

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Tsoutsman T et al.

Clinical and Experimental Pharmacology & Physiology, 2008

Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis.

Konno T et al.

Clinical Science (london, England : 1979), 2007

Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.

Konno T et al.

Journal of Internal Medicine, 2005

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL et al.

Journal of the American College of Cardiology, 2004

DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.

Smart RV et al.

Clinical Genetics, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."