Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.F186delFs
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FOXE3

NM_012186.3:p.F186delFs

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

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Reis LM et al.

Human Genetics, 2019

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.

Quiroz-Casian N et al.

Cornea, 2018

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

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

Ali M et al.

Molecular Vision, 2010

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM et al.

American Journal of Medical Genetics. Part A, 2010

Lack of FOXE3 coding mutation in a case of congenital aphakia.

Sano Y et al.

Ophthalmic Genetics, 0

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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."