Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.E134*
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FZD4

NM_012193.4:p.E134*

Associated Papers

Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.

Tian T et al.

Molecular Vision, 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

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.

Fei P et al.

Scientific Reports, 2015

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Fei P et al.

Molecular Vision, 2014

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Xu Y et al.

Molecular Vision, 2014

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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."