Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I467L
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KRT5

NM_000424.4:p.I467L

Associated Papers

Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report.

Liu L et al.

Experimental and Therapeutic Medicine, 2024

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

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL et al.

The Journal of Investigative Dermatology, 2007

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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."