Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.S638fs
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ZEB1

NM_030751.6:p.S638fs

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

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

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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."