Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.M88T
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KRT17

NM_000422.3:p.M88T

Associated Papers

Mutation analysis of the KRT17 gene in steatocystoma multiplex and a brief literature review.

Zhang B et al.

Clinical and Experimental Dermatology, 2020

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

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

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Cogulu O et al.

European Journal of Pediatrics, 2009

A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.

Tsuda T et al.

The British Journal of Dermatology, 2008

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.

Oh Adib C et al.

Archives of Dermatological Research, 2008

Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.

Oh SW et al.

The Journal of Dermatology, 2006

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

Celebi JT et al.

The Journal of Investigative 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."