Varaico: Literature-Extracted Genetic Variants

Gene:KRT6C
Variant:p.E472K
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KRT6C

NM_173086.5:p.E472K

Associated Papers

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ et al.

The British Journal of Dermatology, 2014

Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.

Kubo A et al.

The Journal of Dermatology, 2013

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.

Akasaka E et al.

The British Journal of Dermatology, 2011

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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."