Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.S130del1
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KRT16

NM_005557.4:p.S130del1

Associated Papers

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.

Xu Q et al.

Journal of Cosmetic Dermatology, 2019

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.

Connors JB et al.

The British Journal of Dermatology, 2001

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Smith FJ et al.

Experimental Dermatology, 2000

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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."