Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.G1093S
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MYBPC3

NM_000256.3:p.G1093S

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-Class3_variants
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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."