Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.L315fs
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FOXE3

NM_012186.3:p.L315fs

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

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

Islam L et al.

Human Mutation, 2015

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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."