Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion> ?p ?o ?g. }
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- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion type Assertion NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_head.
- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion description "[Familial fatal insomnia (FFI)--a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein--and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_provenance.
- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion evidence source_evidence_literature NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_provenance.
- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion SIO_000772 12849238 NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_provenance.
- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion wasDerivedFrom befree-20140225 NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_provenance.
- NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_assertion wasGeneratedBy ECO_0000203 NP696066.RA920phpOEPL30pU85h-hVVekwxEScvr3yTKb44Z7nOgw130_provenance.