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Article

[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2020

Shen Y W, Weng Z F, He W, Chen Y H, Wang Q H, Zou L P, Liu L Y, Shang-Guan H K

Abstract excerpt

Objective: To investigate the clinical characteristics, treatment and prognosis of QARS1 gene related glutaminyl-tRNA synthetase deficiency. Methods: To summarize and analyze the clinical manifestations, imaging, laboratory examination, genetic variant characteristics and treatment of three patients from the Fujian Medical University Affiliated Union Hospital, the 900th Hospital of People's Liberation Army, the...

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PMID: 33256324
DOI: 10.3760/cma.j.cn112140-20200603-00571

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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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