Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L136Q
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KRT14

NM_000526.5:p.L136Q

Associated Papers

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

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.

Glász-Bóna A et al.

The Journal of Investigative Dermatology, 2009

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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."