Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.A800delFs
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DSC2

NM_024422.6:p.A800delFs

Associated Papers

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.

Stroeks SLVM et al.

Circulation. Genomic and Precision Medicine, 2023

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

31386562 (PubMed )
Supplement: circgenetics_circcvg-2019-002467_supp1.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."