Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in an animal model
Karen I. Lange, Sunayna K. Best, Sofia Tsiropoulou, Ian Berry, Colin A. Johnson, Oliver E. Blacque
This study uses C. elegans to interpret the pathogenicity of ciliopathy-associated missense VUS by testing their functional impact on sensory cilia.
bioRxiv · Jun 17, 2021 · PreprintGenetics