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Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort.

Gene - 15 Jan 2024

Tian Lu, Chen Chun-Jie, Song Yu-Ning, Xu Ke, Li Ni-En, Zhang Xiao-Hui, Xie Yue, Jin Zi-Bing, Li Yang

Abstract excerpt

PURPOSE: To depict the variant profiles of the ABCA4 gene in a large Chinese cohort of patients with ABCA4-associated retinal dystrophy (ABCA4-RD). METHODS: We recruited 290 unrelated Chinese patients with ABCA4-RD and did ABCA4 mutational screening by a combination of Sanger sequencing, targeted exome sequencing, entire ABCA4 locus sequencing, and whole genome sequencing (WGS). The pathogenicity of variants was...

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PMID: 37774808
DOI: 10.1016/j.gene.2023.147832

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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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