Associated Papers
Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
Wang Y et al.
Experimental Eye Research, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
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
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
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