Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP765624.RAdiddA29-Zxu_Lg9J3FQhLyL4SqtNce3quCH-N1Emy70#assertion> ?p ?o ?g. }
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- assertion description "[Niemann-Pick type C disease (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17470133 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.