Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.C165S
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GBA1

NM_000157.4:p.C165S

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 › ST5

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

Kausthubham N et al.

Human Mutation, 2021

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1
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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."