Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R202Q
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GBA1

NM_000157.4:p.R202Q

Associated Papers

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.

Kamo H et al.

Movement Disorders Clinical Practice, 2025

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

Miryounesi M et al.

Neurogenetics, 2025

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_8

Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.

Orimo K et al.

Journal of Human Genetics, 2024

Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

Ng ASL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

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

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.

Lim JL et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2022

Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.

Mozafari H et al.

Iranian Journal of Child Neurology, 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

Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.

Chen Y et al.

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

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.

Yu Z et al.

Journal of Human Genetics, 2015

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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."