Associated Papers
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
41376170 (PubMed )
Supplement: mmc2.xlsx › S_table_3_rare
Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
Raynor A et al.
British Journal of Haematology, 2025
39761661 (PubMed )
Supplement: supplement_1.docx
G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
Ricciardi Tenore C et al.
Genes, 2024
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
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
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of Medicine, 2018
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.
Patrinos GP et al.
Human Mutation, 2005
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