POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.
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Neurol Genet. 2020 Oct 13;6(6):e524. doi: 10.1212/NXG.0000000000000524. eCollection 2020 Dec.
Neurol Genet. 2020.
PMID: 33134519
Free PMC article.