Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.S1024R
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MYBPC3

NM_000256.3:p.S1024R

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

Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation.

Liu D et al.

Stem Cell Research, 2025

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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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."