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Browsing Research Articles (Neurology) by Subject "GBA variants"

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Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease

Mahungu, Amokelani C.; Anderson, David G.; Rossouw, Anastasia C.; Van Coller, Riaan; Carr, Jonathan A.; Ross, Owen A.; Bardien, Soraya (Elsevier, 2020-04)

Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi ...

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