Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.M7fs
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FOXE3

NM_012186.3:p.M7fs

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

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

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

Islam L et al.

Human Mutation, 2015

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."