De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy
Djurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, Constance Smith‐Hicks, Trevor L. Hoffman, Nicole I. Wolf, Renske Oegema, Ellen van Binsbergen, Berivan Baskin, Geneviève Bernard, Sébastien Fribourg, Benoit Coulombe, Grace Yoon
Topics & Concepts
AtaxiaMissense mutationSpasticityGeneticsBiologyMedicineMutationGeneNeurosciencePhysical therapyRNA regulation and diseaseTrace Elements in HealthRNA and protein synthesis mechanisms