Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.L208P
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KRT1

NM_006121.4:p.L208P

Associated Papers

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Xiang R et al.

Acta Dermato-venereologica, 2025

Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings.

Ansai O et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.

Ansai O et al.

Clinical and Experimental Dermatology, 2023

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis.

Liu Y et al.

Journal of Dermatological Science, 2006

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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."