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Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Rim Hjeij,Isabella Aprea,Marco Poeta,Tabea Noethe-Menchen,Diana Bracht,Johanna Raidt, Barbara I. Honecker,Gerard W. Dougherty,Heike Olbrich,Oliver Schwartz,Ulrike Keller,Harald Nuesse,Karin E. M. Diderich,Christian Vogelberg,Francesca Santamaria,Heymut Omran

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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关键词
EFCAB1,Laterality defects,ODA,ODAD,PCD
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