Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.K543fs
Back to variants list

MYBPC3

NM_000256.3:p.K543fs

Associated Papers

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."