Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.C117R
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FZD4

NM_012193.4:p.C117R

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

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
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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

The characteristics of digenic familial exudative vitreoretinopathy.

Li Y et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.

Schatz P et al.

Acta Ophthalmologica, 2017

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

Dailey WA et al.

Ophthalmology, 2015

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
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Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.

Drenser KA et al.

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

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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."