Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.Y211H
Back to variants list

FZD4

NM_012193.4:p.Y211H

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

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

Cen C et al.

Medicine, 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

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

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

Swan R et al.

Ophthalmology. Retina, 2018

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

Tang M et al.

Molecular Vision, 2016

The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment.

Pau MS et al.

Journal of Molecular Signaling, 2015

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

Kondo H et al.

Molecular Vision, 2013

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H et al.

Molecular Vision, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."