Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K480_D482delFs
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GBA1

NM_000157.4:p.K480_D482delFs

Associated Papers

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

Barrett MJ et al.

Journal of Inherited Metabolic Disease, 2013

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Giraldo P et al.

Orphanet Journal of Rare Diseases, 2012

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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."