De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G.
Djordjevic D, et al. Among authors: baskin b.
Am J Hum Genet. 2022 Apr 7;109(4):759-763. doi: 10.1016/j.ajhg.2022.03.006.
Am J Hum Genet. 2022.
PMID: 35395209
Free PMC article.
No abstract available.