Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP765698.RAEWyQikV35NZ3ObOuNmnNFo372DXMksqLkZL06_mSzlE#assertion> ?p ?o ?g. }
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- assertion description "[Niemann-Pick type C1 disease (NPC1) is an autosomal recessive neurovisceral storage disease caused by the mutation of NPC1 gene, resulting in perturbed intracellular transport of unesterified cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15099022 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.