Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.S400*
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DSG1

NM_001942.4:p.S400*

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › All

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB et al.

Jama Dermatology, 2025

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].

Kamaleswaran S et al.

Ugeskrift for Laeger, 2014

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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."