Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.A328fs
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MYBPC3

NM_000256.3:p.A328fs

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 › S2._HCM_cohort_variant_classif.

Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.

Melendo-Viu M et al.

Open Heart, 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
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