Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R502Splc
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GBA1

NM_000157.4:p.R502Splc

Associated Papers

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

The clinical management of Type 2 Gaucher disease.

Weiss K et al.

Molecular Genetics and Metabolism, 2015

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Gupta N et al.

Blood Cells, Molecules & Diseases, 2011

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E et al.

Human Mutation, 2002

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL et al.

Human Mutation, 2000

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Aviner S et al.

Blood Cells, Molecules & Diseases, 0

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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."