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Article

Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.

Experimental eye research - 1 Oct 2022

Wang Yingwei, Jiang Yi, Li Xueqing, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Variants in BEST1 are one of the most common cause of retinopathy mainly involving the retinal pigment epithelium with both dominant and recessive traits. This study aimed to describe the characteristics of potential pathogenic variants (PPVs) in BEST1 and their associated clinical features. Variants in BEST1 were collected from our in-house exome sequencing data and systematically evaluated by in silico...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35973442
DOI: 10.1016/j.exer.2022.109217

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