Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.S507A
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SMPD1

NM_000543.5:p.S507A

Associated Papers

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.

Beard CA et al.

Neurobiology of Disease, 2025

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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."