Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L15S
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GBA1

NM_000157.4:p.L15S

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

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_8

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

In-depth phenotyping for clinical stratification of Gaucher disease.

D'Amore S et al.

Orphanet Journal of Rare Diseases, 2021

34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf

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

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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."