Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.E495fs
Back to variants list

ZEB1

NM_030751.6:p.E495fs

Associated Papers

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

Chung DW et al.

Investigative Ophthalmology & Visual Science, 2014

Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Aldave AJ et al.

Jama Ophthalmology, 2013

Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.

Bakhtiari P et al.

Molecular Vision, 2013

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.

Aldave AJ et al.

American Journal of Medical Genetics. Part A, 2007

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."