Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.G399R
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GBA1

NM_000157.4:p.G399R

Associated Papers

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Powline DG et al.

Cureus, 2025

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

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

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

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J et al.

Bmc Medical Genetics, 2019

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › 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."