Genetic & Genomic MedicinemedRxivPreprint
Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders
Jonas Bohnlein, Birgit Weiß, Steffen Hirsch…·Sebastian Sailer
The paper identifies two distinct FBXO31 variants causing different neurodevelopmental disorders: a dominant gain-of-function variant and a recessive loss-of-function deletion.