Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.Q12*
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ZEB1

NM_001174096.2:p.Q12*

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

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

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

Chung DW et al.

Investigative Ophthalmology & Visual Science, 2014

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ et al.

Clinical Genetics, 2013

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

Lechner J et al.

Investigative Ophthalmology & Visual Science, 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

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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."