Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.L140*
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TSPAN12

NM_012338.4:p.L140*

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

Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.

Kondo H et al.

American Journal of Ophthalmology, 2011

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

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 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."