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 analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.
Powell NR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
Manco L et al.
Acta Medica Portuguesa, 2023
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
Prevalence and hematological indicators of G6PD deficiency in malaria-infected patients.
Kotepui M et al.
Infectious Diseases of Poverty, 2016
Characterization of G6PD genotypes and phenotypes on the northwestern Thailand-Myanmar border.
Bancone G et al.
Plos One, 2014
Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles.
Manco L et al.
Haematologica, 2007
Parallel analysis of mutant human glucose 6-phosphate dehydrogenase in yeast using PCR colonies.
Merritt J et al.
Biotechnology and Bioengineering, 2005
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