Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.Q4*
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KRT5

NM_000424.4:p.Q4*

Associated Papers

Galli-Galli Disease: A Comprehensive Literature Review.

Michelerio A et al.

Dermatopathology (basel, Switzerland), 2024

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.

Jia W et al.

Experimental Dermatology, 2023

Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.

Yu W et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

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

The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.

Verma S et al.

Indian Journal of Dermatology, 2014

A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.

Guo L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2012

Atypical cases of Dowling-Degos disease.

Naveen KN et al.

Indian Dermatology Online Journal, 0

Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.

Virmani N et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."