Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.W387G
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GBA1

NM_000157.4:p.W387G

Associated Papers

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Chew EG et al.

Nature Aging, 2025

39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_9

Clinical prediction of GBA carrier status in Parkinson's disease.

Greenberg J et al.

Clinical Parkinsonism & Related Disorders, 2024

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.

Zhou Y et al.

Npj Parkinson's Disease, 2023

Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.

Wen YF et al.

Neural Regeneration Research, 2022

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

den Heijer JM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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."