Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S5*
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KRT5

NM_000424.4:p.S5*

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

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.

Bchetnia M et al.

The Crispr Journal, 2022

Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.

Yang A et al.

The American Journal of Dermatopathology, 2020

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

Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.

Hanneken S et al.

The British Journal of Dermatology, 2010

Generalized Dowling-Degos disease.

Wu YH et al.

Journal of the American Academy of Dermatology, 2007

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.

Liao H et al.

The Journal of Investigative Dermatology, 2007

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Betz RC et al.

American Journal of Human Genetics, 2006

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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."