Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.C387fs
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SMPD1

NM_000543.5:p.C387fs

Associated Papers

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.

Kamalova A et al.

Frontiers in Pediatrics, 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."