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Analysis of common and rare VPS13C variants in late-onset Parkinson disease

9 Jan 2020

Abstract excerpt

Objective We aimed to study the role of coding VPS13C variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD). Methods VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 patients with PD and 1,667 controls from 3 cohorts. Association tests of rare potential homozygous and compound heterozygous variants and burden tests for rare...

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PMID: 32042909
DOI: 10.1212/nxg.0000000000000385

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