Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.I322F
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FZD4

NM_012193.4:p.I322F

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

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).

López-Cañizares A et al.

Ophthalmic Genetics, 2023

Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).

Carrera W et al.

Ophthalmic Genetics, 2021

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C et al.

Investigative Ophthalmology & Visual Science, 2004

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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."