Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.L124P
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KRT16

NM_005557.4:p.L124P

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 genetic basis of pachyonychia congenita.

Smith FJ et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

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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."