Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.P344delFs
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CDSN

NM_001264.5:p.P344delFs

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

Increased expression of caspase-1 and interleukin-18 in peeling skin disease, and a novel mutation of corneodesmosin.

Valentin F et al.

Acta Dermato-venereologica, 2015

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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."