Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I140fs
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KRT5

NM_000424.4:p.I140fs

Associated Papers

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

Kumar S et al.

The British Journal of Dermatology, 2025

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.

Kumar S et al.

The Journal of Investigative Dermatology, 2024

Updated review of genetic reticulate pigmentary disorders.

Zhang J et al.

The British Journal of Dermatology, 2017

Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.

Has C et al.

The Journal of Investigative Dermatology, 2017

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

Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.

Li M et al.

The British Journal of Dermatology, 2016

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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."