Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.V816M
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DSC2

NM_024422.6:p.V816M

Associated Papers

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS et al.

Journal of the American Heart Association, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Malignant Arrhythmia with Variants of Desmocollin-2 and Desmoplakin Genes.

Chen DQ et al.

International Heart Journal, 2019

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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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."