Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.G39R
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GBA1

NM_000157.4:p.G39R

Associated Papers

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

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

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

Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study.

Reynolds TM et al.

International Journal of Clinical Practice, 2021

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

Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.

Creese B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D et al.

Neuroscience Letters, 2016

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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."