A relatively common hypomorphic variant in WARS2 causes monogenic disease
Ilinca, Andreea LU
; Kafantari, Efthymia
LU
and Puschmann, Andreas
LU
(2022)
In Parkinsonism and Related Disorders
94.
p.129-131
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/82b37f8c-c77b-44fd-8c5a-a3f648169b70
- author
- Ilinca, Andreea
LU
; Kafantari, Efthymia
LU
and Puschmann, Andreas
LU
- organization
- publishing date
- 2022-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Common variants, Dystonia, Early-onset Parkinson disease, Hypomorphic variants, Mendelian disease, Mitochondrial disease, Myoclonus, Rare variants, WARS2 c.833T>G, WARS2 c.938A>T, WARS2 p.(Lys313Met), WARS2 p.(Val278Gly)
- in
- Parkinsonism and Related Disorders
- volume
- 94
- pages
- 3 pages
- publisher
- Elsevier
- external identifiers
-
- pmid:35074316
- scopus:85123236363
- ISSN
- 1353-8020
- DOI
- 10.1016/j.parkreldis.2022.01.012
- language
- English
- LU publication?
- yes
- id
- 82b37f8c-c77b-44fd-8c5a-a3f648169b70
- date added to LUP
- 2022-03-21 15:35:42
- date last changed
- 2025-01-30 09:22:11
@misc{82b37f8c-c77b-44fd-8c5a-a3f648169b70,
author = {{Ilinca, Andreea and Kafantari, Efthymia and Puschmann, Andreas}},
issn = {{1353-8020}},
keywords = {{Common variants; Dystonia; Early-onset Parkinson disease; Hypomorphic variants; Mendelian disease; Mitochondrial disease; Myoclonus; Rare variants; WARS2 c.833T>G; WARS2 c.938A>T; WARS2 p.(Lys313Met); WARS2 p.(Val278Gly)}},
language = {{eng}},
pages = {{129--131}},
publisher = {{Elsevier}},
series = {{Parkinsonism and Related Disorders}},
title = {{A relatively common hypomorphic variant in WARS2 causes monogenic disease}},
url = {{http://dx.doi.org/10.1016/j.parkreldis.2022.01.012}},
doi = {{10.1016/j.parkreldis.2022.01.012}},
volume = {{94}},
year = {{2022}},
}