Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.F328S
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FZD4

NM_012193.4:p.F328S

Associated Papers

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

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

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

Crystal structure of the Frizzled 4 receptor in a ligand-free state.

Yang S et al.

Nature, 2018

The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment.

Pau MS et al.

Journal of Molecular Signaling, 2015

Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

Jia LY et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

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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."