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[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Zhang Meng, Wang Chang, Xie Zhen, Wu Cheng, Long Yun

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis of two children with glycogen storage disease type III (GSD III). METHODS: The probands and their parents were subjected to genetic testing, and the pathogenity of candidate variants was analyzed by using bioinformatic tools. RESULTS: Sequencing has identified compound heterozygous variants of the AGL gene in both children, namely c.1423+1G>A and...

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PMID: 34729746
DOI: 10.3760/cma.j.cn511374-20200803-00578

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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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