@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:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_head { this: np:hasAssertion dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion; np:hasProvenance dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance; np:hasPublicationInfo dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo; a np:Nanopublication . dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion a np:Assertion . dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance a np:Provenance . dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo a np:PublicationInfo . } dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion { miriam-gene:3077 a ncit:C16612 . lld:C0018995 a ncit:C7057 . dgn-gda:DGNdcd01e184e4060be38ec14efafd3f3aa sio:SIO_000628 miriam-gene:3077, lld:C0018995; a sio:SIO_001122 . } dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance { dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion dcterms:description "[After the 1996 identification of the main causative gene HFE and confirmation that most patients were homozygous for the founder C282Y mutation, it became clear that some families were linked to rarer conditions, first named 'non-HFE haemochromatosis'.]. 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:16132052; 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:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo { this: dcterms:created "2016-05-13T12:45:36+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" . }