Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R721K
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MYH7

NM_000257.4:p.R721K

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.

Joy G et al.

Circulation, 2023

37463608 (PubMed )
Supplement: cir-148-808-s001.pdf

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes.

Neagoe O et al.

Discoveries (craiova, Romania), 2019

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G et al.

Circulation, 2019

31006259 (PubMed )
Supplement: cir-140-184-s001.pdf

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Perspectives on current recommendations for genetic testing in HCM.

Monserrat L

Global Cardiology Science & Practice, 2018

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Zhao P et al.

Cardiology in the Young, 2017

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].

Zhao X et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2014

Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.

Rai TS et al.

Molecular and Cellular Biochemistry, 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."