Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Q389*
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GBA1

NM_000157.4:p.Q389*

Associated Papers

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Communications Biology, 2025

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Peterschmitt MJ et al.

Journal of Parkinson's Disease, 2022

34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

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