Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.K286R
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PSAP

NM_002778.4:p.K286R

Associated Papers

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Molecular regulations and therapeutic targets of Gaucher disease.

Chen Y et al.

Cytokine & Growth Factor Reviews, 2018

Mutations in the exon 7 of Trp53 gene and the level of p53 protein in double transgenic mouse model of Alzheimer's disease.

Dorszewska J et al.

Folia Neuropathologica, 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."