Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q984*
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MYBPC3

NM_000256.3:p.Q984*

Associated Papers

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 › S11._Variants_LD_check

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_S2

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

Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.

Joy G et al.

Circulation, 2023

37463608 (PubMed )
Supplement: cir-148-808-s001.pdf

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.

Hughes RK et al.

Journal of the American Heart Association, 2021

34310159 (PubMed )
Supplement: JAH3-10-e020227-s001.pdf
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