Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V58_K59Splc
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PSAP

NM_002778.4:p.V58_K59Splc

Associated Papers

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Powline DG et al.

Cureus, 2025

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

Barkhuizen M et al.

Neurochemistry International, 2016

The link between the GBA gene and parkinsonism.

Sidransky E et al.

The Lancet. Neurology, 2012

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M et al.

Human Mutation, 2002

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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."