Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.D273G
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KRT14

NM_000526.5:p.D273G

Associated Papers

Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14.

Misaki M et al.

The Journal of Dermatology, 2024

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.

Saeki H et al.

The Journal of Dermatology, 2006

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K et al.

The British Journal of Dermatology, 2006

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C et al.

The Australasian Journal of Dermatology, 2002

Effect of mutation and phosphorylation of type I keratins on their caspase-mediated degradation.

Ku NO et al.

The Journal of Biological Chemistry, 2001

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

Müller FB et al.

The Journal of Investigative Dermatology, 1998

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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."