Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I183T
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KRT5

NM_000424.4:p.I183T

Associated Papers

PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.

Riahi K et al.

Cell Journal, 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

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K17

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

Kim E et al.

The British Journal of Dermatology, 2017

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

Digenic inheritance in epidermolysis bullosa simplex.

Padalon-Brauch G et al.

The Journal of Investigative Dermatology, 2012

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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."