Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.I444_N445delFs
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ZEB1

NM_030751.6:p.I444_N445delFs

Associated Papers

Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.

Tsedilina TR et al.

Frontiers in Medicine, 2023

37441688 (PubMed )
Supplement: Table_1.xlsx › ZEB1_cases

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Dudakova L et al.

Genes, 2021

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."