GeneticsbioRxivPreprint
CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis
Lea Maria Merz, Shirlee Shril, Tucker J. Carrocci…·Friedhelm Hildebrandt
The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.