Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.E180K
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FZD4

NM_012193.4:p.E180K

Associated Papers

Genomic variation of human microRNAs and its association with functional features.

Cihan M et al.

Cellular and Molecular Life Sciences : Cmls, 2025

41258433 (PubMed )
Supplement: 18_2025_5936_MOESM3_ESM.xlsx › clinvar_results

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

Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.

Kondo H et al.

Ophthalmic Genetics, 2018

Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

Jia LY et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

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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."