Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.R471H
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KRT5

NM_000424.4:p.R471H

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

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

Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.

Zhang W et al.

Frontiers in Chemistry, 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

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K et al.

Journal of Applied Genetics, 2016

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.

Wakiguchi H et al.

Ajp Reports, 2016

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.

Wertheim-Tysarowska K et al.

The British Journal of Dermatology, 2014

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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."