Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.F396_Y398delFs
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FZD4

NM_012193.4:p.F396_Y398delFs

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Qu N et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort.

Wang S et al.

The British Journal of Ophthalmology, 2021

Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.

Tian T et al.

Molecular Vision, 2019

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

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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."