Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.G249delFs
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CDSN

NM_001264.5:p.G249delFs

Associated Papers

A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.

Chen Y et al.

The Journal of Dermatology, 2025

A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.

Kawakami H et al.

Case Reports in Dermatology, 2014

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

Israeli S et al.

The Journal of Investigative Dermatology, 2011

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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."