A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy

Zhao, RL; Dai, ER; Wang, SY; Zhang, X; He, YQ; Peng, L; Zhao, PQ; Yang, ZL; Yang, M; Li, SJ

Yang, M; Li, SJ (通讯作者)，Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Dept Lab Med, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Peoples R China.;Yang, M; Li, SJ (通讯作者)，Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, Chengdu, Peoples R China.;Yang, M; Li, SJ (通讯作者)，Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Chinese Acad Med Sci 2019RU026, Res Unit Blindness Prevent, Chengdu, Peoples R China.

CLINICAL GENETICS, 2023; 103 (3): 320

Abstract

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder; however, the known FEVR-associated variants account for approximately o......

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