Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.S928L
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MYBPC3

NM_000256.3:p.S928L

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

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

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

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T et al.

European Journal of Human Genetics : Ejhg, 2017

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE et al.

Clinical Genetics, 2014

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.

Brito D et al.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2008

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