Associated Papers
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
Stabilization of glucose-6-phosphate dehydrogenase oligomers enhances catalytic activity and stability of clinical variants.
Garcia AA et al.
The Journal of Biological Chemistry, 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
Combined effects of double mutations on catalytic activity and structural stability contribute to clinical manifestations of glucose-6-phosphate dehydrogenase deficiency.
Pakparnich P et al.
Scientific Reports, 2021
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Boonyuen U et al.
International Journal of Biological Macromolecules, 2017
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Ng D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27537706 (PubMed )
Supplement: NIHMS802548-supplement-Table_S4.pdf
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