Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R78C
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GBA1

NM_000157.4:p.R78C

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.

Lerche S et al.

Npj Parkinson's Disease, 2025

40324994 (PubMed )
Supplement: 41531_2025_978_MOESM1_ESM.pdf

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

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.

Koros C et al.

Genes, 2024

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

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

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

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

Greenberg J et al.

Clinical Parkinsonism & Related Disorders, 2024

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.

Pachchek S et al.

Npj Parkinson's Disease, 2023

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI.

Huh YE et al.

Npj Parkinson's Disease, 2021

The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.

Lerche S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.

Alcalay RN et al.

Annals of Clinical and Translational Neurology, 2020

32888397 (PubMed )
Supplement: ACN3-7-1816-s001.docx

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

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

Schierding W et al.

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

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.

Graham OEE et al.

Parkinsonism & Related Disorders, 2020

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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."