Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.T301A
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DSC2

NM_024422.6:p.T301A

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

Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Hong JY et al.

Cancer Research and Treatment, 2023

36164943 (PubMed )
Supplement: crt-2022-251-Supplementary-Table-2.xlsx › S3_Table

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
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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."