Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.V17M
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MYL2

NM_000432.4:p.V17M

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.

Chumakova OS et al.

Journal of Clinical Medicine, 2025

39941537 (PubMed )
Supplement: jcm-14-00866-s001.zip › jcm-3425548-supplementary.pdf

Hypertrophic cardiomyopathy in Duchenne muscular dystrophy: a case series.

Greiner E et al.

Cardiology in the Young, 2024

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_S7

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-s001.pdf
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