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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSAP

Variant:p.V299L

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PSAP

NM_002778.4:p.V299L

hg38:chr10:71821890 C>A

Associated Papers

Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.

Taha HB et al.

Journal of Molecular Medicine (berlin, Germany), 2026

41627451 (PubMed )

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M et al.

Clinical Genetics, 2016

26831127 (PubMed )

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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."