Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.Q505*
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FZD4

NM_012193.4:p.Q505*

Associated Papers

Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma.

Fan J et al.

American Journal of Ophthalmology Case Reports, 2022

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

Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.

Dailey WA et al.

Ophthalmology, 2015

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H et al.

Molecular Vision, 2012

Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.

Drenser KA et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2009

SNPs: impact on gene function and phenotype.

Shastry BS

Methods in Molecular Biology (clifton, N.j.), 2009

Genetic evidence that Drosophila frizzled controls planar cell polarity and Armadillo signaling by a common mechanism.

Povelones M et al.

Genetics, 2005

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C et al.

Investigative Ophthalmology & Visual Science, 2004

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Dickinson JL et al.

Clinical & Experimental Ophthalmology, 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."