Associated Papers
Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Agarwal AM et al.
European Journal of Haematology, 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
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
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