Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.S97del1
Back to variants list

KRT17

NM_000422.3:p.S97del1

Associated Papers

A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

Xiao SX et al.

The Journal of Investigative Dermatology, 2004

[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].

Feng YG et al.

Zhonghua Yi Xue Za Zhi, 2003

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."