Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R291G
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SMPD1

NM_000543.5:p.R291G

Associated Papers

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Gedallovich J et al.

Journal of Hematopathology, 2025

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

Girard S et al.

Hemasphere, 2024

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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."