Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.R795Q
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MYH6

NM_002471.4:p.R795Q

Associated Papers

Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.

Rao VJ et al.

Journal of the American Heart Association, 2025

41128141 (PubMed )
Supplement: JAH3-14-e042036-s001.pdf

Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.

Chung H et al.

Korean Circulation Journal, 2025

40736383 (PubMed )
Supplement: kcj-55-1001-s006.xls › kcj-55-1001-s006

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.

Glavaški M et al.

Medicina (kaunas, Lithuania), 2023

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Lee SH et al.

Journal of Cardiovascular Development and Disease, 2022

36005429 (PubMed )
Supplement: jcdd-09-00265-s001.zip › jcdd-1819276-supplementary.pdf

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

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

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

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28518168 (PubMed )
Supplement: gim201726x1.pdf

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG et al.

Plos One, 2011

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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."