@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:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_head { this: np:hasAssertion dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_assertion; np:hasProvenance dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_provenance; np:hasPublicationInfo dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_publicationInfo; a np:Nanopublication . dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_assertion a np:Assertion . dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_provenance a np:Provenance . dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_publicationInfo a np:PublicationInfo . } dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_assertion { miriam-gene:2235 a ncit:C16612 . lld:C0162568 a ncit:C7057 . dgn-gda:DGN40d0f26f8eb48a9abc37f41340eb6114 sio:SIO_000628 miriam-gene:2235, lld:C0162568; a sio:SIO_001121 . } dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_provenance { dgn-np:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_assertion dcterms:description "[In this study, we screened the FC gene for mutations in 12 patients from 10 unrelated families with EPP and their family members using heteroduplex analysis, automated sequencing, and restriction enzyme digestion.]. 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:10431482; 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:NP259242.RAT7UbXiJ_5ELaqgw_L2V3aI-hvYbGR3xJrYbLHte7h5w130_publicationInfo { this: dcterms:created "2016-05-13T12:43:43+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" . }