Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S378L
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GBA1

NM_000157.4:p.S378L

Associated Papers

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.

Donald A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

Noreau A et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011

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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."