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Author

Giulia Pavani

2 papers indexed here

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Open access Sep 2026

Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.

It is demonstrated that a scalable, quantitative assay capturing STXBP1 stability and syntaxin-binding behavior can differentiate benign from pathogenic variants and provide functional insights into mechanisms of pathogenicity.

Elisa A. Waxman, Jennine M. Dawicki-McKenna, I. McSalley et al. · 0 citations
2026

Production of Induced Pluripotent Stem Cell-Derived Red Blood Cells.

Protocols to generate developmentally primitive and definitive RBCs from iPSCs are outlined, and methods to perform antibody identification using iPSC-derived RBCs as reagent cells in gel agglutination assays commonly used by blood banks and reference immunohematology laboratories are outlined.

Hyun Hyung An, Giulia Pavani, Stella T. Chou · 0 citations

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