Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1
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
40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1
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
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
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
G6PD deficiency in Latin America: systematic review on prevalence and variants.
Monteiro WM et al.
Memorias Do Instituto Oswaldo Cruz, 2014
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
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