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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.S403insFs

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GBA1

NM_000157.4:p.S403insFs

hg38:chr1:155236261 C>CT

Associated Papers

Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Barrett MJ et al.

Journal of Inherited Metabolic Disease, 2013

22968580 (PubMed )

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

Giraldo P et al.

Journal of Inherited Metabolic Disease, 2011

21384230 (PubMed )

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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."