Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E1050K
Back to variants list

MYBPC3

NM_000256.3:p.E1050K

Associated Papers

Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children.

Chen S et al.

Iscience, 2024

Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.

Wu G et al.

Circulation. Genomic and Precision Medicine, 2021

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Thompson AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S1.xlsx › Sheet1

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-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."