Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.V526_N527insFs
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ZEB1

NM_030751.6:p.V526_N527insFs

Associated Papers

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.

Fernández-Gutiérrez E et al.

International Journal of Molecular Sciences, 2022

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Lechner J et al.

Investigative Ophthalmology & Visual Science, 2013

Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy.

Mehta JS et al.

Investigative Ophthalmology & Visual Science, 2008

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Krafchak CM et al.

American Journal of Human Genetics, 2005

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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."