Article

Phenotypic effect of<i>GBA1</i>variants in individuals with and without Parkinson disease: the RAPSODI study

2023-07-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson disease (PD), and modify the expression of the PD phenotype. The penetrance of GBA1 variants in PD is incomplete, and the ability to determine who amongst GBA1 variant carriers are at higher risk of developing PD, would represent an advantage for progno...

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Literature Corpus work: 951e8c01-c6b2-568c-88cc-7e8f79bfab29
DOI: 10.1101/2023.07.25.23291637

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