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
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.
Cunningham AD et al.
Cell Reports, 2017
Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
Gómez-Manzo S et al.
International Journal of Molecular Sciences, 2016
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.
Doss CG et al.
Scientific Reports, 2016
Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.
Benmansour I et al.
Blood Cells, Molecules & Diseases, 2013
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