@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:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_head { this: np:hasAssertion dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion; np:hasProvenance dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance; np:hasPublicationInfo dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo; a np:Nanopublication . dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion a np:Assertion . dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance a np:Provenance . dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion { miriam-gene:100856809 a ncit:C16612 . lld:C0020459 a ncit:C7057 . dgn-gda:DGNcf91f34e26799c738e47906015c63057 sio:SIO_000628 miriam-gene:100856809, lld:C0020459; a sio:SIO_001121 . } dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_provenance { dgn-np:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_assertion dcterms:description "[Restriction-endonuclease cleavage of DNA isolated from circulating leukocytes in the patient and in family members with hyperinsulinemia revealed loss of the MboII recognition site in one allele of the insulin gene--consistent with a point mutation at position 24 or 25 in the insulin B chain.]. 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:6371526; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP1017155.RA3MowO6Uc7VNe6Ed5CAUbS6UJIUEK5l_aLLnVrqPqkv8130_publicationInfo { this: dcterms:created "2015-08-25T14:48:11+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }