Article

<i>GBA1</i> variants with unknown classification are modest contributors to Parkinson’s disease susceptibility

2025-09-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> GBA1 variants cause Gaucher disease (GD) in biallelic forms and increase Parkinson’s disease (PD) risk in heterozygous carriers. Carriers of ‘severe’ or ‘mild’ variants (causing GD type 1 or types 2-3) can enroll in clinical trials, whereas those with ‘unknown’ variants are typically excluded. <h4>Objectives</h4> We assessed the contribution of ‘unknown’ variants to PD risk...

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Literature Corpus work: 9249425e-ce63-5b5d-92ae-e4e5b05baa1c
DOI: 10.1101/2025.09.05.25335124

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