Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.M105T
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FZD4

NM_012193.4:p.M105T

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

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Milhem RM et al.

Molecular Medicine (cambridge, Mass.), 2019

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

Seemab S et al.

Bmc Evolutionary Biology, 2019

30849938 (PubMed )
Supplement: 12862_2019_1400_MOESM2_ESM.pdf

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

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Milhem RM et al.

Investigative Ophthalmology & Visual Science, 2014

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.

Robitaille JM et al.

The British Journal of Ophthalmology, 2011

SNPs: impact on gene function and phenotype.

Shastry BS

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

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C et al.

Investigative Ophthalmology & Visual Science, 2004

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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."