Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q1794K
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MYH7

NM_000257.4:p.Q1794K

Associated Papers

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S4

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Genetic basis of hypertrophic cardiomyopathy in children.

Rupp S et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Walsh R et al.

Genome Medicine, 2019

30696458 (PubMed )
Supplement: 13073_2019_616_MOESM1_ESM.xlsx › Table_S6

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

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

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.

Xu J et al.

Scientific Reports, 2015

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