Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.L124R
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KRT16

NM_005557.4:p.L124R

Associated Papers

Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.

Zieman AG et al.

The British Journal of Dermatology, 2020

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

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

McLean WH et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

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

Smith FJ et al.

Experimental Dermatology, 2000

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Almutawa F et al.

Case Reports in Dermatology, 0

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