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

13 Jun 2023

Abstract excerpt

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 Nanopore sequencing as a strategy, to determine the frequency of GBA1 variants in Norwegian PD patients and controls, and...

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PMID: 37312046
DOI: 10.1186/s12864-023-09417-y

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