Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A348V
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GBA1

NM_000157.4:p.A348V

Associated Papers

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E et al.

Molecular Genetics and Metabolism Reports, 2020

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Blauwendraat C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

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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."