Fig. 1: Schematic overview of the GFI1B variants investigated.

a The schematic overview for GFI1B includes the N-terminal Snail/GFI1 domain (SNAG), the intermediate domain and the six C-terminal zinc fingers, labeled 1 to 6. In total four GFI1B variants were investigated: Three miss-sense mutations in the first zinc finger and one truncating mutation in zinc finger 5. b Clinical data overview for the 4 variants investigated. GFI1B^H181Y, GFI1B^R184P, and GFI1B^Q287* resulted in bleedings with varying intensity. Bleeding tendencies for GFI1B^T174N has not been reported publicly. GFI1B^R184P and GFI1B^Q287* have been reported to be likely pathogenic and pathogenic in ClinVAR, respectively. Information obtained from GnomAD (accessed 19.12.2023)⁵², ClinVAR (accessed 19.12.2023), refs. ^19,20.