Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L155P
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KRT5

NM_000424.4:p.L155P

Associated Papers

PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.

Riahi K et al.

Cell Journal, 2021

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

Jiang X et al.

Annals of Dermatology, 2021

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.

Bchetnia M et al.

Experimental Dermatology, 2020

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.

Yu Y et al.

The Australasian Journal of Dermatology, 2020

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

Kim E et al.

The British Journal of Dermatology, 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."