Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L546_S547delFs
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KRT5

NM_000424.4:p.L546_S547delFs

Associated Papers

Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?

Valinotto LE et al.

Acta Dermato-venereologica, 2025

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema.

Yalici-Armagan B et al.

Pediatric Dermatology, 2020

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.

Kumagai Y et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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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."