Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D778G
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MYH7

NM_000257.4:p.D778G

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

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

Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Hsieh J et al.

Frontiers in Cell and Developmental Biology, 2022

35784482 (PubMed )
Supplement: DataSheet1.pdf

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

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

[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

Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.

Kimura A

Journal of Human Genetics, 2010

Insights into human beta-cardiac myosin function from single molecule and single cell studies.

Sivaramakrishnan S et al.

Journal of Cardiovascular Translational Research, 2009

Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

Revera M et al.

Cardiovascular Research, 2008

Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

Ware SM et al.

Clinical Genetics, 2008

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."