Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.G36D
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FZD4

NM_012193.4:p.G36D

Associated Papers

Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

van der Ende S et al.

Investigative Ophthalmology & Visual Science, 2025

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

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

Lu J et al.

Investigative Ophthalmology & Visual Science, 2022

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

Milhem RM et al.

Molecular Medicine (cambridge, Mass.), 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

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

Tang M et al.

Molecular Vision, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

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

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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."