Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.R127H
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FZD4

NM_012193.4:p.R127H

Associated Papers

An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.

Cen C et al.

Medicine, 2025

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

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

Seemab S et al.

Bmc Evolutionary Biology, 2019

The genetics of retinopathy of prematurity: a model for neovascular retinal disease.

Swan R et al.

Ophthalmology. Retina, 2018

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.

Kondo H et al.

Molecular Vision, 2013

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 0

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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."