Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
Tengsujaritkul M et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.
Sun B et al.
Frontiers in Genetics, 2022
A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns.
Luo X et al.
Annals of Translational Medicine, 2020
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.
Minucci A et al.
Blood Cells, Molecules & Diseases, 2012
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
Moradkhani K et al.
American Journal of Hematology, 2012
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