Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D63N
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GBA1

NM_000157.4:p.D63N

Associated Papers

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

Hruska KS et al.

Human Mutation, 2008

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S et al.

Human Mutation, 2005

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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."