Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.T274M
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MYBPC3

NM_000256.3:p.T274M

Associated Papers

Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk.

Paz-Cruz E et al.

Frontiers in Cardiovascular Medicine, 2025

Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe TV et al.

Human Mutation, 2021

33942434 (PubMed )
Supplement: HUMU-42-799-s001.xlsx › MYBPC3_NCSS
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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."