Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.M1R
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ZEB1

NM_001174096.2:p.M1R

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

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

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.

Vincent AL et al.

Molecular Vision, 2009

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

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."