Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.I96V
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DSC2

NM_024422.6:p.I96V

Associated Papers

Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.

Chua CJ et al.

Genes, 2023

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.

Pohl GM et al.

Frontiers in Cardiovascular Medicine, 2023

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."