Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S16G
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GBA1

NM_000157.4:p.S16G

Associated Papers

In-depth phenotyping for clinical stratification of Gaucher disease.

D'Amore S et al.

Orphanet Journal of Rare Diseases, 2021

34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

den Heijer JM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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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."