Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.W22_L23Splc
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TSPAN12

NM_012338.4:p.W22_L23Splc

Associated Papers

Familial exudative retinopathy TSPAN12 positive presenting as bilateral retinal stalks: late structural and functional findings.

Amorelli GM et al.

American Journal of Ophthalmology Case Reports, 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

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

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Iarossi G et al.

Journal of Ophthalmology, 2017

Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".

Iarossi G et al.

Journal of Ophthalmology, 2017

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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."