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- W3119137806 abstract "Mutations in VPS16 have been identified to be responsible for generalized dystonia. We screened VPS16 variants in 53 unrelated subjects with isolated dystonia via whole-exome sequencing. A novel pathogenic frameshift mutation p.R643fs* was found in a patient with early-onset multifocal dystonia with prominent oromandibular and bulbar involvement. Our findings expanded the spectrum of VPS16-related dystonia and suggested that mutations in VPS16 should be considered in patients with progressive early-onset dystonia." @default.
- W3119137806 created "2021-01-18" @default.
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- W3119137806 date "2021-02-01" @default.
- W3119137806 modified "2023-09-27" @default.
- W3119137806 title "Mutation screening of VPS16 gene in patients with isolated dystonia" @default.
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- W3119137806 doi "https://doi.org/10.1016/j.parkreldis.2020.12.014" @default.
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