@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:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_head { this: np:hasAssertion dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_assertion; np:hasProvenance dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_provenance; np:hasPublicationInfo dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_publicationInfo; a np:Nanopublication . dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_assertion a np:Assertion . dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_provenance a np:Provenance . dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_publicationInfo a np:PublicationInfo . } dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_assertion { miriam-gene:10587 a ncit:C16612 . lld:C2940786 a ncit:C7057 . dgn-gda:DGN99b0ce756bd85d6b55defc1cc4ce240e sio:SIO_000628 miriam-gene:10587, lld:C2940786; a sio:SIO_001121 . } dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_provenance { dgn-np:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_assertion dcterms:description "[We now report point mutations in the TR beta gene of six additional families with GRTH and show that three mutations occurred each in three families with GRTH, and that three other mutations were each present in two families.]. 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:8514853; 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:NP848060.RAVn6gDaKPeAmEL14oNAvl4COP42pE6lKfUfdNTeC7V3U130_publicationInfo { this: dcterms:created "2015-08-25T14:46:15+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" . }