Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.P533S
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SMPD1

NM_000543.5:p.P533S

Associated Papers

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Abtahi R et al.

Journal of Molecular Neuroscience : Mn, 2022

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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."