Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.E365Q
Back to variants list

GBA1

NM_000157.4:p.E365Q

Associated Papers

Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson's Disease Patients with GBA1 Mutations.

Kojima R et al.

International Journal of Molecular Sciences, 2024

Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

Dandana A et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2016

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

Hruska KS et al.

Human Mutation, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."