Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing

Mutations in VHL exon 2 associated with erythrocytosis or VHL disease affect both splicing and protein stability. This study uncovers regulatory splicing elements and implicates RNA-binding proteins hnRNPF and hnRNPAB in VHL exon 2 regulation, highlighting limitations of current prediction tools and providing insights into VHL-related molecular pathogenesis.