Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D1666N
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MYH7

NM_000257.4:p.D1666N

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

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.

ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm.

Busse L et al.

Medrxiv : the Preprint Server for Health Sciences, 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_S10

Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.

Celestino-Soper PB et al.

Frontiers in Cardiovascular Medicine, 2017

28361054 (PubMed )
Supplement: Table_1.XLSX › S8
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