Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Y525S
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MYBPC3

NM_000256.3:p.Y525S

Associated Papers

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_S2.xlsx › Sheet1

Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up.

Yang H et al.

Frontiers in Cardiovascular Medicine, 2021

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Coppini R et al.

Journal of the American College of Cardiology, 2014

25524337 (PubMed )
Supplement: mmc1.pdf

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

Olivotto I et al.

Mayo Clinic Proceedings, 2008

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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."