Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.K500Q
Back to variants list

MYBPC3

NM_000256.3:p.K500Q

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

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

Suay-Corredera C et al.

The Journal of Biological Chemistry, 2021

34097875 (PubMed )
Supplement: mmc4.xlsx › Hoja1
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."