Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.E28_A29insFs
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DYNAP

NM_173629.3:p.E28_A29insFs

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

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

Hruska KS et al.

Human Mutation, 2008

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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."