Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Q265delFs
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GBA1

NM_000157.4:p.Q265delFs

Associated Papers

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.

Panteghini C et al.

Parkinsonism & Related Disorders, 2023

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M et al.

Jimd Reports, 2013

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

Hruska KS et al.

Human Mutation, 2008

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Rozenberg R et al.

Blood Cells, Molecules & Diseases, 0

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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."