Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L279P
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GBA1

NM_000157.4:p.L279P

Associated Papers

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.

Donald A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN-DBS status.

Almelegy A et al.

Annals of Clinical and Translational Neurology, 2024

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.

Pal G et al.

Annals of Neurology, 2022

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Peterschmitt MJ et al.

Journal of Parkinson's Disease, 2022

34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."