Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.N409T
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GBA1

NM_000157.4:p.N409T

Associated Papers

Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.

Sardarpour N et al.

International Journal of Molecular and Cellular Medicine, 2023

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Parnetti L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D et al.

Neuroscience Letters, 2016

Gaucher disease: multiple lessons from a single gene disorder.

Beutler E

Acta Paediatrica (oslo, Norway : 1992). Supplement, 2006

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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."