Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V499L
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GBA1

NM_000157.4:p.V499L

Associated Papers

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

41413081 (PubMed )
Supplement: 41531_2025_1192_MOESM1_ESM.pdf

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

Spargo TP et al.

Cell Reports, 2025

40056900 (PubMed )
Supplement: NIHMS2069108-supplement-5.xlsx › GBA1_variants

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

Yang J et al.

Npj Parkinson's Disease, 2025

40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.

Dos Santos JCC et al.

Molecular Neurobiology, 2024

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

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

Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.

De Michele G et al.

Acta Neurologica Belgica, 2023

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.

Vollstedt EJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.

Szwedo AA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35106798 (PubMed )
Supplement: NIHMS1817702-supplement-Supplementary_material.docx

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
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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."