Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G550fs
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KRT5

NM_000424.4:p.G550fs

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

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

Yalici-Armagan B et al.

Pediatric Dermatology, 2020

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

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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."