Article
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Current eye research - 1 Jun 2021
Yang Junxing, Xiao Xueshan, Sun Wenmin, Li Shiqiang, Jia Xiaoyun, Zhang Qingjiong
Abstract excerpt
PURPOSE: Variants in RCBTB1 have been reported in autosomal recessive inherited retinal dystrophies and autosomal dominant familial exudative vitreoretinopathy (FEVR). This study aims to verify the correlation between RCBTB1 variations and phenotypes. METHODS: Variants in RCBTB1 were selected from 6303 unrelated families with different forms of eye conditions based on whole exome sequencing and targeted exome...
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