Article

<i>GBA</i>in Parkinson’s disease: variant detection and pathogenicity scoring matters

2023-02-07

Abstract excerpt

<h4>Background</h4> GBA variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA variants concerning PD is still not fully understood. Additionally, the frequency of GBA variants varies widely across populations. <h4>Objectives</h4> To evaluate Oxford Nanopore sequencing as a strategy, to determine the frequency of GBA variants in Norwegian PD patients and cont...

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Literature Corpus work: 6ffea7ab-8c01-5ebd-a967-4856c1abdb4c
DOI: 10.1101/2023.02.03.23285410

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