Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.I412F
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KRT14

NM_000526.5:p.I412F

Associated Papers

Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations.

Bchetnia M et al.

Stem Cell Research, 2022

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.

Bchetnia M et al.

Experimental Dermatology, 2020

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

Expression signature of epidermolysis bullosa simplex.

Bchetnia M et al.

Human Genetics, 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."