Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.N421delFs
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GBA1

NM_000157.4:p.N421delFs

Associated Papers

The Global Parkinson's Disease Genetics (GP2) Genome Browser.

Fang ZH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Reply to: Is Gauchian genotyping of GBA1 variants reliable?

Toffoli M et al.

Communications Biology, 2025

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Communications Biology, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Towns C et al.

Npj Parkinson's Disease, 2024

39420034 (PubMed )
Supplement: 41531_2024_778_MOESM1_ESM.docx

Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).

Ryan E et al.

American Journal of Medical Genetics. Part A, 2024

Neurological symptoms in adults with Gaucher disease: a systematic review.

Imbalzano G et al.

Journal of Neurology, 2024

38771384 (PubMed )
Supplement: 415_2024_12439_MOESM3_ESM.docx

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Stanescu S et al.

Biomedicines, 2023

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

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.

Toffoli M et al.

Communications Biology, 2022

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.

Behl T et al.

Translational Neurodegeneration, 2021

GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Riboldi GM et al.

Cells, 2019

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Leija-Salazar M et al.

Molecular Genetics & Genomic Medicine, 2019

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Lesage S et al.

Human Molecular Genetics, 2011

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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."