Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.G460D
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GBA1

NM_000157.4:p.G460D

Associated Papers

The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.

Giannini G et al.

Journal of Parkinson's Disease, 2024

38306061 (PubMed )
Supplement: jpd-14-jpd230334-s001.pdf

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."