Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.E276fs
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PSAP

NM_002778.4:p.E276fs

Associated Papers

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Pavan E et al.

International Journal of Molecular Sciences, 2024

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

PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.

Zhao YW et al.

Brain : a Journal of Neurology, 2021

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M et al.

Clinical Genetics, 2016

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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."