Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D228E
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MYBPC3

NM_000256.3:p.D228E

Associated Papers

The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.

Su W et al.

Frontiers in Cardiovascular Medicine, 2025

40693221 (PubMed )
Supplement: Datasheet1.pdf

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

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."