Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.L501delFs
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FZD4

NM_012193.4:p.L501delFs

Associated Papers

A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).

Yang L et al.

Scientific Reports, 2026

Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).

Wai YZ et al.

International Journal of Retina and Vitreous, 2022

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Zhu X et al.

Genetic Testing and Molecular Biomarkers, 2020

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 and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J et al.

Investigative Ophthalmology & Visual Science, 2015

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

Nallathambi J et al.

Molecular Vision, 2006

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

Robitaille J et al.

Nature Genetics, 2002

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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."