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Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.

Gene - 15 Feb 2023

Jin Bingyu, Li Jing, Yang Qiaodan, Tang Xinyu, Wang Chen, Zhao Yue, Zheng Fang, Zhang Yuanzhen, Ma Jianhong, Yan Ming

Abstract excerpt

The study aimed to screen for the causative variants in Chinese patients with suspected retinitis pigmentosa (RP). A cohort of 75 unrelated Chinese patients with a clinical diagnosis of RP and their available family members were enrolled in this study. Genomic DNA of all subjects was extracted and whole-exome sequencing (WES) was applied. Candidate variants were identified, and minigene assays were conducted to...

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Identifiers

PMID: 36464167
DOI: 10.1016/j.gene.2022.147087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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