Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion> ?p ?o ?g. }
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- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion type Assertion NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_head.
- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_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." NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_provenance.
- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion evidence source_evidence_literature NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_provenance.
- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion SIO_000772 17470133 NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_provenance.
- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion wasDerivedFrom befree-2016 NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_provenance.
- NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_assertion wasGeneratedBy ECO_0000203 NP607463.RAdYPlp7USFWq2QkEzO6ei87m1hizllMqZG72cxsTXwnE130_provenance.