Associated Papers
Predicting nitroimidazole antibiotic resistance mutations in Mycobacterium tuberculosis with protein engineering.
Lee BM et al.
Plos Pathogens, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM3_ESM.xlsx › Sheet1
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Benavides N et al.
Frontiers in Immunology, 2020
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
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