Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.F244L
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MYH7

NM_000257.4:p.F244L

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

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.

The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.

Su W et al.

Frontiers in Cardiovascular Medicine, 2025

40693221 (PubMed )
Supplement: Datasheet1.pdf

Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.

Ahmad SA et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2022

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

Transient swallowing-induced atrial tachycardia in a patient with genotyped hypertrophic cardiomyopathy.

Fujino N et al.

Clinical Case Reports, 2020

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

Zhao Y et al.

International Journal of Molecular Medicine, 2017

[The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province].

Xiang H et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2016

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

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

Rayment I et al.

Proceedings of the National Academy of Sciences of the United States of America, 1995

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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."