Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.L128Q
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KRT16

NM_005557.4:p.L128Q

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

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.

Dai L et al.

European Journal of Pediatrics, 2014

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Liao H et al.

Journal of Dermatological Science, 2007

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A et al.

The Journal of Investigative Dermatology, 2001

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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."