Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.G314insFs
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FOXE3

NM_012186.3:p.G314insFs

Associated Papers

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

Akbar W et al.

The Journal of Gene Medicine, 2024

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

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Islam L et al.

Human Mutation, 2015

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M et al.

Molecular Vision, 2010

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU et al.

Human Mutation, 2009

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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."