Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Author:
Funder
Fundação para a Ciência e a Tecnologia
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00720-0.pdf
Reference20 articles.
1. Albanese A, Bhatia K, Bressman SB et al (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873. https://doi.org/10.1002/mds.25475
2. Jinnah HA, Teller JK, Galpern WR (2015) Recent developments in dystonia. Curr Opin Neurol 28:400–405. https://doi.org/10.1097/WCO.0000000000000213
3. Powis Z, Towne MC, Hagman KDF et al (2020) Clinical diagnostic exome sequencing in dystonia: genetic testing challenges for complex conditions. Clin Genet 97:305–311. https://doi.org/10.1111/cge.13657
4. Zech M, Jech R, Boesch S et al (2020) Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19:908–918. https://doi.org/10.1016/S1474-4422(20)30312-4
5. Park J, Reilaender A, Petry-Schmelzer JN et al (2022) Transcript-specific loss-of-function variants in VPS16 are enriched in patients with dystonia. Neurol Genet 8:e644. https://doi.org/10.1212/nxg.0000000000000644
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