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

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Medicine & Life Sciences