Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R945fs
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MYBPC3

NM_000256.3:p.R945fs

Associated Papers

Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.

Chung H et al.

Korean Circulation Journal, 2025

40736383 (PubMed )
Supplement: kcj-55-1001-s006.xls › kcj-55-1001-s006

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

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.

Glavaški M et al.

Medicina (kaunas, Lithuania), 2023

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2021

33407484 (PubMed )
Supplement: 12947_2020_233_MOESM1_ESM.docx

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

Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Kim HY et al.

Journal of Clinical Medicine, 2020

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2019

31660989 (PubMed )
Supplement: 12947_2019_171_MOESM2_ESM.docx

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8
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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."