Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P467L
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GBA1

NM_000157.4:p.P467L

Associated Papers

Animal Models for the Study of Gaucher Disease.

Cabasso O et al.

International Journal of Molecular Sciences, 2023

The ovine Type II Gaucher disease model recapitulates aspects of human brain disease.

Winner LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease.

Karageorgos L et al.

Neurobiology of Disease, 2016

Genetic testing for phenotype-causing variants in sheep and goats.

Lühken G

Molecular and Cellular Probes, 2012

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Valenzano KJ et al.

Assay and Drug Development Technologies, 2011

Gaucher disease in sheep.

Karageorgos L et al.

Journal of Inherited Metabolic Disease, 2011

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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."