Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.D207_Q209del3
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PSAP

NM_002778.4:p.D207_Q209del3

Associated Papers

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

Taha HB et al.

Journal of Molecular Medicine (berlin, Germany), 2026

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

Kolnikova M et al.

Journal of Molecular Neuroscience : Mn, 2019

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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."