De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
| Autor: | 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 |
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| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 759-763. |
| DOI: | 10.1016/j.ajhg.2022.03.006 |
| Databáze: | MEDLINE |
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