Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.S128P
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KRT14

NM_000526.5:p.S128P

Associated Papers

Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization.

Rietscher K et al.

The Journal of Investigative Dermatology, 2022

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

Kopečková L et al.

The British Journal of Dermatology, 2016

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B 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."