Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.Q209*
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CDSN

NM_001264.5:p.Q209*

Associated Papers

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

Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

Wada T et al.

Clinical Genetics, 2014

A sporadic case of pyogenic arthritis, pyoderma gangrenosum and acne syndrome without an identifiable mutation.

Park BM et al.

Clinical and Experimental Dermatology, 2014

A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.

Yang SX et al.

Clinical and Experimental Dermatology, 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."