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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Movement Disordersarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Movement Disorders
Article . 2023 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
https://doi.org/10.1101/2022.0...
Article . 2022 . Peer-reviewed
Data sources: Crossref
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Classification of GBA1 variants in Parkinson’s disease; the GBA1 -PD browser

Authors: Sitki Cem Parlar; Francis P. Grenn; Jonggeol Jeffrey Kim; Cornelis Baluwendraat; Ziv Gan‐Or;

Classification of GBA1 variants in Parkinson’s disease; the GBA1 -PD browser

Abstract

ABSTRACT Background GBA1 variants are among the most common genetic risk factors for Parkinson’s Disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher’s Disease (GD) or PD: severe, mild, and risk variant (for PD). Objectives This paper aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials. Methods We performed a literature search for all GBA1 variants that have been reported in PD. The data has been standardized and complimented with variant classification, Odds Ratio (OR) if available and other data. Results We found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser, containing up-to-date information on these variants ( https://pdgenetics.shinyapps.io/GBA1Browser/ ). Conclusions The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1 -PD.

Keywords

Gaucher Disease, Mutation, Humans, Glucosylceramidase, Parkinson Disease

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
116
Top 1%
Top 10%
Top 1%
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