Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.K199N
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KRT5

NM_000424.4:p.K199N

Associated Papers

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.

Zhang J et al.

Experimental and Therapeutic Medicine, 2016

A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

Deng W et al.

Journal of Dermatological Science, 2011

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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."