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View article: S901 COMBINED GENE PANEL SEQUENCING AND EKTACYTOMETRY - THE NEXT GENERATION OF RED CELL DIAGNOSTICS
S901 COMBINED GENE PANEL SEQUENCING AND EKTACYTOMETRY - THE NEXT GENERATION OF RED CELL DIAGNOSTICS Open
Background: Autoimmune hemolytic anemia (AIHA) is clinically heterogeneous, from chronic compensated to abrupt hemolysis. Together with the rate of antibody mediated erythrocyte destruction, bone marrow reticulocyte compensation is a recen…
View article: The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants
The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants Open
Question Like other disorders with a strong genetic association, a growing sequence dataset from various autoinflammatory syndrome patients continues to identify many variants of uncertain significance (VUS), i.e. missense and intronic var…