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Article

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.

Translational vision science & technology - 1 May 2023

Wang You, Wang Qiong, Li Songshan, Ding Xiaoyan

Abstract excerpt

Purpose: To report the novel causative variants in five Chinese families with familial exudative vitreoretinopathy (FEVR). Methods: Five unrelated Chinese families diagnosed with FEVR were enrolled in this study. Ocular examinations and genetic analysis were performed on the probands and family members. Luciferase assay was performed to evaluate the variants' impacts on Norrin/β-catenin signaling activity....

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Identifiers

PMID: 37252707
DOI: 10.1167/tvst.12.5.29
PMCID: PMC10230444

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