Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.W319*
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FZD4

NM_012193.4:p.W319*

Associated Papers

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.

Lu J et al.

Investigative Ophthalmology & Visual Science, 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

Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy.

Tang M et al.

Molecular Vision, 2016

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

Dailey WA et al.

Ophthalmology, 2015

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K et al.

Human Mutation, 2010

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

Boonstra FN et al.

Investigative Ophthalmology & Visual Science, 2009

SNPs: impact on gene function and phenotype.

Shastry BS

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

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Qin M et al.

Human Genetics, 2008

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

Povelones M et al.

Genetics, 2005

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

Qin M et al.

Human Mutation, 2005

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C et al.

Investigative Ophthalmology & Visual Science, 2004

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Kondo H et al.

The British Journal of Ophthalmology, 2003

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."