Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.V394L
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GBA2

NM_020944.3:p.V394L

Associated Papers

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.

Arévalo NB et al.

Frontiers in Molecular Neuroscience, 2022

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.

Revel-Vilk S et al.

International Journal of Molecular Sciences, 2020

32998334 (PubMed )
Supplement: ijms-21-07159-s001.pdf

Exploring genetic modifiers of Gaucher disease: The next horizon.

Davidson BA et al.

Human Mutation, 2018

Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease.

Hamler R et al.

Analytical Chemistry, 2017

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Stirnemann J et al.

International Journal of Molecular Sciences, 2017

Glucocerebrosidase Mutations in Parkinson Disease.

O'Regan G et al.

Journal of Parkinson's Disease, 2017

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Development of targeted therapies for Parkinson's disease and related synucleinopathies.

Sybertz E et al.

Journal of Lipid Research, 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."