Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.L233L
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PSAP

NM_002778.4:p.L233L

Associated Papers

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Ouled Amar Bencheikh B et al.

Neurobiology of Aging, 2018

Aberrant p53 protein expression and function in a panel of hematopoietic cell lines with different p53 mutations.

Kamihira S et al.

European Journal of Haematology, 2009

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N et al.

Human Mutation, 2004

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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."