Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.G492R
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FZD4

NM_012193.4:p.G492R

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

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

Seemab S et al.

Bmc Evolutionary Biology, 2019

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

SNPs: impact on gene function and phenotype.

Shastry BS

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

[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy].

Müller M et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2008

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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."