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Article

[Phenotypes and ATP7B gene variants in 316 children with Wilson disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Apr 2022

Lu Z K, Cheng J, Li S M, Lin Y T, Zhang W, Li X Z, Sheng H Y, Mao X J, Mei H F, Zheng R D, Liang C L, Jiang M Y, Huang Y L, Liu L, Zeng C H

Abstract excerpt

Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD in Guangzhou Women and Children's Medical Center during the period from January 2010 to June 2021. The general...

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PMID: 35385937
DOI: 10.3760/cma.j.cn112140-20210827-00708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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