https://bibliographie.uni-tuebingen.de/xmlui/handle/10900/68624
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle...
https://blogs.bmj.com/jmg/2016/05/06/mutations-in-cep120-cause-joubert-syndrome-as-well-as-complex-ciliopathy-phenotypes/
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (Contributed by...
Feb 25, 2026 - Ciliopathies are an extensive group of disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may...
https://pubmed.ncbi.nlm.nih.gov/30609407/
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function....
mutationscauserelated
https://bibliographie.uni-tuebingen.de/xmlui/handle/10900/172321
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the...