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Pathogenic KIAA0586/TALPID3 Variants Are Associated with Defects in Primary and Motile Cilia

Jacqueline E. Taudien,Diana Bracht,Heike Olbrich,Sebastian Swirski,Fulvio D'Abrusco,Bert van der Zwaag, Maike Moeller, Thomas Lucke,Norbert Teig,Ulrika Lindberg,Kai Wohlgemuth,Julia Wallmeier, Anja Blanque,Christos Gatsogiannis, Sebastian George,Christoph Jueschke,Marta Owczarek-Lipska, Dorothee Veer,Hester Y. Kroes,Enza Maria Valente, G. Christoph Korenke, Heymut Omran,John Neidhardt

ISCIENCE（2025）

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Key words
Joubert Syndrome,obstructive airway disease,lung,primary and motile cilia,KIAA0586/TALPID3,deep-intronic variant
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