Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.M82V
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FOXE3

NM_012186.3:p.M82V

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1A

Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.

Chaar DL et al.

Investigative Ophthalmology & Visual Science, 2025

40801674 (PubMed )
Supplement: iovs-66-11-32_s001.pdf

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Biorxiv : the Preprint Server for Biology, 2025

40488133 (PubMed )
Supplement: media-2.xlsx › gnomAD

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Lecca M et al.

Clinical Genetics, 2024

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

Reis LM et al.

Human Molecular Genetics, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Reis LM et al.

Human Genetics, 2019

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

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

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

Islam L et al.

Human Mutation, 2015

A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice.

Wada K et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

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

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

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

Iseri SU et al.

Human Mutation, 2009

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

Saboo US et al.

Ophthalmic Genetics, 0

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."