Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.R50Splc
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TSPAN12

NM_012338.4:p.R50Splc

Associated Papers

Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

van der Ende S et al.

Investigative Ophthalmology & Visual Science, 2025

Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant.

Carroll RM et al.

Ophthalmic Genetics, 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

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.

Yang H et al.

Molecular Vision, 2011

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA et al.

American Journal of Human Genetics, 2010

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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."