Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.L201delFs
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TSPAN12

NM_012338.4:p.L201delFs

Associated Papers

A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.

Elhusseiny AM et al.

European Journal of Ophthalmology, 2022

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

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J et al.

Investigative Ophthalmology & Visual Science, 2015

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

Yang H et al.

Molecular Vision, 2011

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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."