Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.C189Y
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TSPAN12

NM_012338.4:p.C189Y

Associated Papers

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.

Yaylacioglu Tuncay F et al.

Investigative Ophthalmology & Visual Science, 2025

39903177 (PubMed )
Supplement: iovs-66-2-9_s001.xlsx › Sayfa1

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

van der Ende S et al.

Investigative Ophthalmology & Visual Science, 2025

Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.

Wu W et al.

Human Genomics, 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

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Xu Y et al.

Molecular Vision, 2014

The Presence of Wnt Signaling Mutations in Patients With Diabetic Retinopathy.

Moinuddin O et al.

Journal of Vitreoretinal Diseases, 0

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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."