Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.Q162*
Back to variants list

CDSN

NM_001264.5:p.Q162*

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

Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN.

Rayinda T et al.

Clinical and Experimental Dermatology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."