Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.E392*
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KRT14

NM_000526.5:p.E392*

Associated Papers

Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.

Li P et al.

Current Opinion in Cell Biology, 2023

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

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

Montaudié H et al.

Orphanet Journal of Rare Diseases, 2016

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

A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue.

Baek JO et al.

The British Journal of Dermatology, 2010

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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."