@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:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_head { this: np:hasAssertion dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_assertion; np:hasProvenance dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_provenance; np:hasPublicationInfo dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_publicationInfo; a np:Nanopublication . dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_assertion a np:Assertion . dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_provenance a np:Provenance . dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_publicationInfo a np:PublicationInfo . } dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_assertion { miriam-gene:1836 a ncit:C16612 . lld:C0026760 a ncit:C7057 . dgn-gda:DGNfe681269d18cb3d0b19a710fca147a84 sio:SIO_000628 miriam-gene:1836, lld:C0026760; a sio:SIO_001121 . } dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_provenance { dgn-np:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_assertion dcterms:description "[The results show that mutations in COL9A1 can cause MED, but they also suggest that mutations in COL9A1, COL9A2, COL9A3, COMP, and DTDST are not the major causes of MED and that there exists at least one additional locus.]. 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:11565064; 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:NP330737.RACYO47ZQCQUwYXAJRqEhFTzFfcM5Q_r_hcZ7iSsuXjLo130_publicationInfo { this: dcterms:created "2016-05-13T12:44:15+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }