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Title:

Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.

Document type:
Letter; Journal Article
Author(s):
Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Příhodová, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina; Zech, Michael
Journal title abbreviation:
Mov Disord Clin Pract
Year:
2023
Journal volume:
10
Journal issue:
7
Pages contribution:
1159-1161
Fulltext / DOI:
doi:10.1002/mdc3.13793
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37476319
TUM Institution:
611; Institut für Humangenetik (Prof. Winkelmann)
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