Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.N215D
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PSAP

NM_002778.4:p.N215D

Associated Papers

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

Taha HB et al.

Journal of Molecular Medicine (berlin, Germany), 2026

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

Yoldas Celik M et al.

Journal of Child Neurology, 2025

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.

Li X et al.

The Journal of International Medical Research, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._
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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."