Associated Papers
High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.
Silva JNV et al.
Blood Transfusion = Trasfusione Del Sangue, 2025
A BRAF-activated noncoding RNA attenuates clear cell renal cell carcinoma via repression of glucose-6-phosphate dehydrogenase.
Liu W et al.
The Journal of Biological Chemistry, 2025
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant.
Salgado RC et al.
Journal of Clinical Immunology, 2023
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
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.
Rizo-delaTorre LDC et al.
Annals of Human Genetics, 2022
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
G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.
Ferreira NS et al.
International Journal of Laboratory Hematology, 2021
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 › ClinVar
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.
Au SW et al.
Structure (london, England : 1993), 2000
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