Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.C105R
Back to variants list

TSPAN12

NM_012338.4:p.C105R

Associated Papers

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

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

Lai MB et al.

Cell Reports, 2017

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

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

Moinuddin O et al.

Journal of Vitreoretinal Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."