Varaico: Literature-Extracted Genetic Variants

Gene:HSPA5
Variant:p.V394L
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HSPA5

NM_005347.5:p.V394L

Associated Papers

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.

Arévalo NB et al.

Frontiers in Molecular Neuroscience, 2022

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A et al.

Journal of Neurochemistry, 2016

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.

Mu TW et al.

Plos Biology, 2008

18254660 (PubMed )
Supplement: pbio.0060026.sg005.pdf

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.

Ron I et al.

Human Molecular Genetics, 2005

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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."