Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.E40_R49del10
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FZD4

NM_012193.4:p.E40_R49del10

Associated Papers

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

Lähteenoja L et al.

Acta Ophthalmologica, 2025

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."