Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.E178K
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KRT2

NM_000423.3:p.E178K

Associated Papers

A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.

Shinkuma S et al.

Acta Dermato-venereologica, 2013

A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.

Nishizawa A 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."