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Article

Mutation screening of AOPEP variants in a large dystonia cohort.

Journal of neurology - 1 Jun 2023

Lin Junyu, Li Chunyu, Cui Yiyuan, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Wei Qianqian, Liu Kuncheng, Huang Rui, Yang Tianmi, Xiao Yi, Jiang Qirui, Yang Jing, Chen Xueping, Shang Huifang

Abstract excerpt

STUDY OBJECTIVES: Recently, AOPEP has been identified to be a novel causative gene of autosomal-recessive dystonia. However, no large cohort study has been conducted to confirm the association. We aimed to systematically evaluate the genetic associations of AOPEP with dystonia in a large Chinese dystonia cohort. METHODS: We analyzed rare variants of AOPEP in 878 dystonia patients with whole-exome sequencing. The...

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Identifiers

PMID: 36933031
DOI: 10.1007/s00415-023-11665-7

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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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