Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.L245P
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TSPAN12

NM_012338.4:p.L245P

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

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C

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

Lai MB et al.

Cell Reports, 2017

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

Kondo H et al.

American Journal of Ophthalmology, 2011

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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