Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R368H
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GBA1

NM_000157.4:p.R368H

Associated Papers

Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?

Kresojević N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.

Buyukserbetci G et al.

Medicina (kaunas, Lithuania), 2025

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

Spargo TP et al.

Cell Reports, 2025

40056900 (PubMed )
Supplement: NIHMS2069108-supplement-1.pdf

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

Yang J et al.

Npj Parkinson's Disease, 2025

40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4

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

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.

Zhou Y et al.

Npj Parkinson's Disease, 2023

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf

Reply to: "Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism".

Kresojević N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

Genetic characterization of the Albanian Gaucher disease patient population.

Cullufi P et al.

Jimd Reports, 2021

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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."