Original paper
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy
Volume: 108, Issue: 1, Pages: 186 - 193
Published: Jan 1, 2021
Abstract
POLR3B encodes the second-largest catalytic subunit of RNA polymerase III, an enzyme involved in transcription. Bi-allelic pathogenic variants in POLR3B are a well-established cause of hypomyelinating leukodystrophy. We describe six unrelated individuals with de novo missense variants in POLR3B and a clinical presentation substantially different from POLR3-related leukodystrophy. These individuals had afferent ataxia, spasticity, variable...
Paper Details
Title
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy
Published Date
Jan 1, 2021
Volume
108
Issue
1
Pages
186 - 193
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History