Biblio
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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.
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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.