Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.Y58C
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FZD4

NM_012193.4:p.Y58C

Associated Papers

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Wang Y et al.

Progress in Retinal and Eye Research, 2025

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.

Yaylacioglu Tuncay F et al.

Investigative Ophthalmology & Visual Science, 2025

39903177 (PubMed )
Supplement: iovs-66-2-9_s001.xlsx › Sayfa1

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.

Dai E et al.

Investigative Ophthalmology & Visual Science, 2024

Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.

Seemab S et al.

Bmc Evolutionary Biology, 2019

Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.

Xiao H et al.

Journal of Ophthalmology, 2019

An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy.

Zhang K et al.

The Journal of Biological Chemistry, 2011

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 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."