Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.C189R
Back to variants list

TSPAN12

NM_012338.4:p.C189R

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

The characteristics of digenic familial exudative vitreoretinopathy.

Li Y et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018

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

Schatz P et al.

Acta Ophthalmologica, 2017

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."