Genetic variants of VWF gene in type 2 von Willebrand disease.
Samuel da Silva FreitasSuely Meireles RezendeLuciana Correa de OliveiraAlessandra Nunes Loureiro PrezottiMarília Sande RenniCamila Amormino CorsiniMarcos Vinícius de Almeida AmorimCarolina Guimarães Ramos MatosinhoMaria Raquel Santos CarvalhoDaniel Gonçalves ChavesPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2019)
In conclusion, we identified 19 variants, of which 14 are "likely pathogenic" and therefore associated with VWD. We suggest a possible association of pathogenic variants with major bleeding, response to desmopressin and BAT score ≥10, although this requires further confirmation.