Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.S509N
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SMPD1

NM_000543.5:p.S509N

Associated Papers

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Lidove O et al.

La Revue De Medecine Interne, 2017

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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."