Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicingValéna Karaghiannis(Centre National de la Recherche Scientifique), Betty Gardie(Inserm)The American Journal of Human GeneticsSeptember 24, 202510.1016/j.ajhg.2025.09.002Cited by 0SaveCiteExport RISWatch citationsRelated PapersDistinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia|Haematologica|2011|54