Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.E40Q
Back to variants list

FZD4

NM_012193.4:p.E40Q

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

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

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.pdf

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K et al.

Human Mutation, 2010

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."