Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G543S
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KRT5

NM_000424.4:p.G543S

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

New common variants affecting susceptibility to basal cell carcinoma.

Stacey SN et al.

Nature Genetics, 2009

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.

Sprecher E et al.

The British Journal of Dermatology, 2007

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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."