Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.W330*
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GBA1

NM_000157.4:p.W330*

Associated Papers

Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.

Katragadda P et al.

Journal of Movement Disorders, 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 › ST2

Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.

Kamath SD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Curado F et al.

Diagnostics (basel, Switzerland), 2023

37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Dinur T et al.

International Journal of Molecular Sciences, 2022

35163551 (PubMed )
Supplement: ijms-23-01627-s001.zip › Table_S1.pdf
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