@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:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_head { this: np:hasAssertion dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_assertion; np:hasProvenance dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_provenance; np:hasPublicationInfo dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_publicationInfo; a np:Nanopublication . dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_assertion a np:Assertion . dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_provenance a np:Provenance . dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_publicationInfo a np:PublicationInfo . } dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_assertion { miriam-gene:2645 a ncit:C16612 . lld:C0342277 a ncit:C7057 . dgn-gda:DGN78c69a1d254ce57faea9e2717e55eaba sio:SIO_000628 miriam-gene:2645, lld:C0342277; a sio:SIO_001122 . } dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_provenance { dgn-np:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_assertion dcterms:description "[Of a total of 13 new lines confirmed by heritability testing, we identified two semi-dominant pedigrees with novel missense mutations (Gck(K140E) and Gck(P417R)) in the gene encoding glucokinase (Gck), the mammalian glucose sensor that is mutated in human maturity onset diabetes of the young type 2 and the target of emerging anti-hyperglycemic agents that function as glucokinase activators (GKAs).]. 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:21921030; 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:NP924160.RAAdTVpZdG3t2JBmOQpfa-J5_OAd_vDogL31B-Ij-RMZg130_publicationInfo { this: dcterms:created "2016-05-13T12:48:43+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" . }