Associated Papers
Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.
Chandran S et al.
Biomedicine, 2024
An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.
Hernández-Ochoa B et al.
International Journal of Molecular Sciences, 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
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.
Lee HY et al.
Frontiers in Pediatrics, 2022
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Scott SA et al.
Clinical and Translational Science, 2021
32931151 (PubMed )
Supplement: CTS-14-204-s001.xlsx › Table_S1
The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency.
Alagoz M et al.
Journal of Molecular Neuroscience : Mn, 2020
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
Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
Gómez-Manzo S et al.
International Journal of Molecular Sciences, 2016
Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.
Gómez-Manzo S et al.
International Journal of Molecular Sciences, 2016
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