Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L28_L29insFs
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GBA1

NM_000157.4:p.L28_L29insFs

Associated Papers

Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review.

Bougea A

Genes, 2025

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

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Glucocerebrosidase mutations and Parkinson disease.

Vieira SRL et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2022

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Weinreb NJ et al.

Molecular Genetics and Metabolism, 2022

Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.

Mahungu AC et al.

Neurobiology of Aging, 2020

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.

Avenali M et al.

Frontiers in Aging Neuroscience, 2020

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

Gatto EM et al.

Brain Sciences, 2019

Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.

Zhang Y et al.

Frontiers in Molecular Neuroscience, 2018

Glucocerebrosidase Mutations in Parkinson Disease.

O'Regan G et al.

Journal of Parkinson's Disease, 2017

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A et al.

Journal of Neurochemistry, 2016

Association of glucocerebrosidase mutations with dementia with lewy bodies.

Clark LN et al.

Archives of Neurology, 2009

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.

Clark LN et al.

Neurology, 2007

Analysis of the glucocerebrosidase gene in Parkinson's disease.

Sato C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

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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."