@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:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_head { this: np:hasAssertion dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_assertion; np:hasProvenance dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_provenance; np:hasPublicationInfo dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_publicationInfo; a np:Nanopublication . dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_assertion a np:Assertion . dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_provenance a np:Provenance . dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_publicationInfo a np:PublicationInfo . } dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_assertion { miriam-gene:138428 a ncit:C16612 . lld:C0025267 a ncit:C7057 . dgn-gda:DGN1896bf8e07f5a592c9414b09fa835065 sio:SIO_000628 miriam-gene:138428, lld:C0025267; a sio:SIO_001121 . } dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_provenance { dgn-np:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_assertion dcterms:description "[The same mutation pattern was seen in both the proband's younger brother and cousin diagnosed as MEN1, and was also observed in the son of the cousin who showed signs of normal levels of serum PTH associated with mild hypercalcemia and hypophosphatemia.]. 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:10395246; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP837070.RAT2QN-O5mafokC4tlU72j-Dw-_KPTsoCxm8wfx4l3UkA130_publicationInfo { this: dcterms:created "2014-10-02T12:40:32+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }