Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V391M
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GBA1

NM_000157.4:p.V391M

Associated Papers

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Curado F et al.

Diagnostics (basel, Switzerland), 2023

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M et al.

Neurobiology of Aging, 2018

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

Ankleshwaria C et al.

Journal of Human Genetics, 2014

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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."