@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:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_head { this: np:hasAssertion dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_assertion; np:hasProvenance dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_provenance; np:hasPublicationInfo dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_publicationInfo; a np:Nanopublication . dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_assertion a np:Assertion . dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_provenance a np:Provenance . dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_publicationInfo a np:PublicationInfo . } dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_assertion { miriam-gene:2131 a ncit:C16612 . lld:C0015306 a ncit:C7057 . dgn-gda:DGN01c01ed9f2e4f976eaf731b2419ff54c sio:SIO_000628 miriam-gene:2131, lld:C0015306; a sio:SIO_001121 . } dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_provenance { dgn-np:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_assertion dcterms:description "[To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing 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:11593646; 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:NP332666.RAMOzW8Q6LmG31FAsmw93d7cullqDb_SBBi_b07RsvXbU130_publicationInfo { this: dcterms:created "2016-05-13T12:44:16+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" . }