Associated Papers
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.
Powell NR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.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
Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.
Hamel AR et al.
Blood Cells, Molecules & Diseases, 0
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