Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.E127*
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DSC2

NM_024422.6:p.E127*

Associated Papers

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.

Ormondroyd E et al.

European Journal of Human Genetics : Ejhg, 2020

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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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."