Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.P252fs
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CDSN

NM_001264.5:p.P252fs

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

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.

van der Velden JJAJ et al.

The Journal of Dermatology, 2020

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

Mallet A et al.

The British Journal of Dermatology, 2013

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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."