Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.Q122P
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KRT16

NM_005557.4:p.Q122P

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

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

Corden LD et al.

The British Journal of Ophthalmology, 2000

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.

Smith FJ et al.

The British Journal of Dermatology, 1999

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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."