Biblio
2023
Claus LR, Chen C, Stallworth J, Turner JL, Slaats G, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, et al. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease. Kidney Int. 2023.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DGm, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, et al. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2023.