Luca Stefanucci

Postdoctoral Scientist
University of Cambridge

Presentation(s):

• PB0823 - The rare VWF non-canonical splice-site variant, c.8155+6T>A, causes type 3 von Willebrand disease in homozygosity and results in perinuclear retention of VWF in endothelial cells

  Monday, July 11, 2022
  6:30 PM – 7:30 PM

• OC 64.1 - The VarioPath project: Determining effect sizes of pathogenic variants in platelet disorder genes, using clinical data from 0.5M whole exome sequenced UK Biobank participants

  Tuesday, July 12, 2022
  2:45 PM – 3:00 PM