Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion> ?p ?o ?g. }
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- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion type Assertion NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_head.
- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion description "[He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.
- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion evidence source_evidence_literature NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.
- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion SIO_000772 25149939 NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.
- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion wasDerivedFrom befree-2016 NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.
- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion wasGeneratedBy ECO_0000203 NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.