Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.L101H
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TSPAN12

NM_012338.4:p.L101H

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

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.

Sun W et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2021

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

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

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA 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

Genotypic Distribution and Clinical Correlations in Familial Exudative Vitreoretinopathy: A Single-Center Study.

Soetikno BT et al.

Ophthalmology Science, 0

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