Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.K409*
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MYBPC3

NM_000256.3:p.K409*

Associated Papers

Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy.

Nollet EE et al.

Circulation. Genomic and Precision Medicine, 2024

38853772 (PubMed )
Supplement: hcg-17-e004369-s002.xlsx › Blad3

Mitochondrial dysfunction in human hypertrophic cardiomyopathy is linked to cardiomyocyte architecture disruption and corrected by improving NADH-driven mitochondrial respiration.

Nollet EE et al.

European Heart Journal, 2023

36734059 (PubMed )
Supplement: ehad028_supplementary_data.zip › Supplementary_table_1.xlsx › Blad3

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-s001.pdf
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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."