Associated Papers
Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
Lo CH et al.
The Journal of Clinical Investigation, 2024
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.
Wang H et al.
Frontiers in Genetics, 2022
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC et al.
American Journal of Human Genetics, 2017
Select a paper to view details