@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_head { this: np:hasAssertion dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion; np:hasProvenance dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance; np:hasPublicationInfo dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo; a np:Nanopublication . dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion a np:Assertion . dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance a np:Provenance . dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion { miriam-gene:5621 a ncit:C16612 . lld:C0162534 a ncit:C7057 . dgn-gda:DGNd324109ef61778a16d45abd5151af31c sio:SIO_000628 miriam-gene:5621, lld:C0162534; a sio:SIO_001122 . } dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance { dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion dcterms:description "[Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD178) are two prion diseases that have different clinical and pathological features, the same aspartic acid to asparagine mutation (D178N) at codon 178 of the prion protein (PrP) gene, but distinct genotypes generated by the methionine-valine polymorphism at codon 129 (129M or 129V) in the mutant allele of the PrP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:7767490; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:45+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }