Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
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
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
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A et al.
Plos One, 2021
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.
Gao J et al.
Human Heredity, 2020
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
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