@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:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_head { this: np:hasAssertion dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_assertion; np:hasProvenance dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_provenance; np:hasPublicationInfo dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_publicationInfo; a np:Nanopublication . dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_assertion a np:Assertion . dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_provenance a np:Provenance . dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_assertion { miriam-gene:551 a ncit:C16612 . lld:C0271592 a ncit:C7057 . dgn-gda:DGNb8f80e99dc9e6659b571cf60c049e65d sio:SIO_000628 miriam-gene:551, lld:C0271592; a sio:SIO_001122 . } dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_provenance { dgn-np:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_assertion dcterms:description "[The mutation also abolished an MspI site in the vasopressin sequence, and analysis of genomic DNA from eight members of the kindred (five with FDI) confirmed segregation of the mutation with the FDI phenotype.]. 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:9814475; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP62736.RAVEPOzChZR7DpG3q_BbV8SB5CdbvsE917Or1vCjD-84Q130_publicationInfo { this: dcterms:created "2014-10-02T12:32:29+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" . }