Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E477D
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KRT5

NM_000424.4:p.E477D

Associated Papers

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko NA et al.

International Journal of Molecular Sciences, 2021

Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex.

Khani P et al.

Medical Journal of the Islamic Republic of Iran, 2020

Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.

Lalor L et al.

Pediatric Dermatology, 2019

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Montaudié H et al.

Orphanet Journal of Rare Diseases, 2016

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D et al.

The Journal of Investigative Dermatology, 2016

Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.

Homberg M et al.

The Journal of Investigative Dermatology, 2015

Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.

Schumann H et al.

The British Journal of 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."