Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T222_L224del3
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GBA1

NM_000157.4:p.T222_L224del3

Associated Papers

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Cotrin JC et al.

Neurogenetics, 2025

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

Rizig M et al.

The Lancet. Neurology, 2023

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

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.

Rizig M 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
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