Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.C228G
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SMPD1

NM_000543.5:p.C228G

Associated Papers

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.

Oliva P et al.

Molecular Genetics and Metabolism, 2023

Niemann-Pick type A disease with new mutation: a case report.

Aghamahdi F et al.

Journal of Medical Case Reports, 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."