Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1222146.RAc_0Y8yz7wX5IqHnLF8HCoKQVMC358MMCvVxgy7tZQGo#assertion> ?p ?o ?g. }
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- assertion description "[Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 or NPC2, resulting in an accumulation of cholesterol in the endosomal-lysosomal system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23010472 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.