GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widely across populations. Objectives To evaluate Oxford...

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Bibliographic Details
Main Authors: Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Genomics
Subjects:
Parkinson’s disease
GBA
Variants
Nanopore sequencing
Risk factor
Online Access:https://doi.org/10.1186/s12864-023-09417-y

Internet

https://doi.org/10.1186/s12864-023-09417-y

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