Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R602P
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SMPD1

NM_000543.5:p.R602P

Associated Papers

Crystal structure of mammalian acid sphingomyelinase.

Gorelik A et al.

Nature Communications, 2016

27435900 (PubMed )
Supplement: ncomms12196-s1.pdf

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S et al.

Human Mutation, 2016

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP et al.

Molecular Medicine (cambridge, Mass.), 0

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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."