CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis
PRPF8、DYRK2 和 CEP78 中的 CAKUT 变异:对剪接和纤毛发生的影响
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doi:10.1101/2025.07.16.665151
Merz, Lea M; Shril, Shirlee; Carrocci, Tucker J; Rezi, Csenge K; Zeps, Natalie J; Jiménez-Izquierdo, Rafael; Bergmann, Florian; Petriman, Narcis Adrian; Kolvenbach, Caroline M; Mertens, Nils D; Johansen, Søren L; Halbritter, Jan; Hilger, Alina Christine; Mohiuddin, Shaikh Qureshi Wasay; Hentges, Kathryn E; Rasouly, Hila Milo; Gharavi, Ali G; Yoshida, Kiyotsugu; Lorentzen, Esben; Calzado, Marco; Kispert, Andreas; Yoshida, Saishu; Pedersen, Lotte B; Hoskins, Aaron A; Buerger, Florian; Hildebrandt, Friedhelm