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Article

[Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants: a single-center study].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 May 2018

Chen X, Yang L, Wang H J, Wu B B, Lu Y L, Dong X R, Zhou W H

Abstract excerpt

Objective: To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD. Methods: The known pathogenic disease-causing variants of G6PD were collected from Human Gene Mutation Database. Screening was performed for these variants among the 7 966 cases (2 357...

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Identifiers

PMID: 29783823
DOI: 10.3760/cma.j.issn.0578-1310.2018.05.011

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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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