Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.G188R
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TSPAN12

NM_012338.4:p.G188R

Associated Papers

Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity.

Zhang T et al.

Journal of Cellular Biochemistry, 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

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.

Schatz P et al.

Acta Ophthalmologica, 2017

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S et al.

Progress in Retinal and Eye Research, 2017

TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.

Lai MB et al.

Cell Reports, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Xu Y et al.

Molecular Vision, 2014

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

Yang H et al.

Molecular Vision, 2011

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K et al.

American Journal of Human Genetics, 2010

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."