PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA).

Afonso Ribeiro, Joana; Sousa, Mário; Alonso, Isabel; Moreira, Fradique; Pereira, Ricardo; Palavra, Filipe (2022). PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA). Movement disorders clinical practice, 9(5), pp. 703-706. Wiley 10.1002/mdc3.13426

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Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Nogueira da Silva e Sousa, Mario Jorge

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2330-1619

Publisher:

Wiley

Language:

English

Submitter:

Pubmed Import

Date Deposited:

20 Jul 2022 14:18

Last Modified:

05 Dec 2022 16:21

Publisher DOI:

10.1002/mdc3.13426

PubMed ID:

35844287

Uncontrolled Keywords:

PRKRA gene deep brain stimulation hereditary dystonia next‐generation sequencing pseudogene

BORIS DOI:

10.48350/171418

URI:

https://boris.unibe.ch/id/eprint/171418

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