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Title:Biallelic RFC1 expansions are a rare cause of early-onset and familial Parkinson's disease
Authors:ID Kovanda, Anja (Author)
ID Šušmelj, Lara (Author)
ID Jaklič, Helena (Author)
ID Lukežič, Tadeja (Author)
ID Maver, Aleš (Author)
ID Petrović, Igor N. (Author)
ID Peterlin, Borut (Author), et al.
Files:.pdf PDF - Presentation file, download (171,19 KB)
MD5: DC72B485C9403184ED142349C0394747
 
URL URL - Source URL, visit https://onlinelibrary.wiley.com/doi/10.1111/cge.70095
 
Language:English
Typology:1.03 - Other scientific articles
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Keywords:CANVAS, neurodegenerative disease, vestibular areflexia syndrome, CANVAS, RFC1, PCR
Publication status:Published
Publication version:Version of Record
Year of publishing:2026
Number of pages:str. 604-606
Numbering:Vol. 109, issue 3
PID:20.500.12556/DiRROS-28413 New window
UDC:61:575
ISSN on article:1399-0004
DOI:10.1111/cge.70095 New window
COBISS.SI-ID:256091651 New window
Note:Nasl. z nasl. zaslona; Opis vira z dne 6. 11. 2025;
Publication date in DiRROS:18.03.2026
Views:185
Downloads:159
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Record is a part of a journal

Title:Clinical genetics
Shortened title:Clin. genet.
Publisher:Blackwell
ISSN:1399-0004
COBISS.SI-ID:515015193 New window

Document is financed by a project

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:P3-0326-2020
Name:Ginekologija in reprodukcija: Genomika za personalizirano medicino

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:J3-4517-2022
Name:Napredna genomska diagnostika za odkrivanje mehanizmov prirojenih razvojnih nepravilnosti

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License:CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
Link:http://creativecommons.org/licenses/by-nc/4.0/
Description:A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.

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