Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D513N
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GBA1

NM_000157.4:p.D513N

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

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

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
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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."