Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P284L
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GBA1

NM_000157.4:p.P284L

Associated Papers

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.

Mashima R et al.

International Journal of Molecular Sciences, 2020

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."