Mutations of TOPORS identified in families with retinitis pigmentosa

He, KW; Zhou, YY; Li, ND

Li, ND (通讯作者),Beijing Childrens Hosp, Dept Ophthalmol, 56 South Lishi Rd, Beijing 100045, Peoples R China.

OPHTHALMIC GENETICS, 2022; 43 (3): 371

Abstract

Purpose To identify TOPORS mutations in patients with retinitis pigmentosa (RP) from our cohort and summarize the genotypes and phenotypes of TOPORS r......

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