@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:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_head { this: np:hasAssertion dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_assertion; np:hasProvenance dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_provenance; np:hasPublicationInfo dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_publicationInfo; a np:Nanopublication . dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_assertion a np:Assertion . dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_provenance a np:Provenance . dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_assertion { miriam-gene:100856809 a ncit:C16612 . lld:C0011849 a ncit:C7057 . dgn-gda:DGNd0f70db831a1757618d28d749a500234 sio:SIO_000628 miriam-gene:100856809, lld:C0011849; a sio:SIO_001122 . } dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_provenance { dgn-np:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_assertion dcterms:description "[We have previously identified a structurally abnormal insulin in the serum and pancreas of a middle-aged man with diabetes mellitus which arose from a leucine for phenylalanine substitution at position 24 or 25 of the insulin B chain; further analysis of the patient's leukocyte DNA showed that one of the patient's insulin alleles had undergone mutation resulting in loss of an MboII restriction site normally present in the human insulin 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:6339950; 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:NP1017147.RAmGOnNnTZyqtG4htUiAbCxwbdTgizJ5hWloU4owYNRE0130_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" . }