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Article

Genetic mechanism vs genetic subtypes: The example of GBA.

Handbook of clinical neurology - 1 Jan 2023

Senkevich Konstantin, Rudakou Uladzislau, Gan-Or Ziv

Abstract excerpt

Genetic variants in GBA, encoding the lysosomal enzyme glucocerebrosidase (GCase), are common risk factors for Parkinson's disease (PD). Genotype-phenotype studies have demonstrated that different types of GBA variants have differential effects on the phenotype. Variants could be classified as mild or severe depending on the type of Gaucher disease they cause in the biallelic state. It was shown that severe GBA...

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PMID: 36803808
DOI: 10.1016/B978-0-323-85555-6.00016-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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