Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.*320L
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FOXE3

NM_012186.3:p.*320L

Associated Papers

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM et al.

Human Molecular Genetics, 2021

34046667 (PubMed )
Supplement: supplemental_files_revised_ddab142.pdf

FOXE3 mutations: genotype-phenotype correlations.

Plaisancié J et al.

Clinical Genetics, 2018

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ et al.

The Journal of Clinical Investigation, 2016

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L et al.

European Journal of Human Genetics : Ejhg, 2011

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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."