Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.C230G
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PSAP

NM_002778.4:p.C230G

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 and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.

Sheth J et al.

Jimd Reports, 2023

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

Eklund EA et al.

Molecular Genetics and Metabolism, 2005

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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."