@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:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_head { this: np:hasAssertion dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_assertion; np:hasProvenance dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_provenance; np:hasPublicationInfo dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_publicationInfo; a np:Nanopublication . dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_assertion a np:Assertion . dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_provenance a np:Provenance . dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_publicationInfo a np:PublicationInfo . } dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_assertion { miriam-gene:1280 a ncit:C16612 . lld:C0392476 a ncit:C7057 . dgn-gda:DGN03bd201b1f69c1ad7ea9649d21526c61 sio:SIO_000628 miriam-gene:1280, lld:C0392476; a sio:SIO_001121 . } dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_provenance { dgn-np:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_assertion dcterms:description "[Based on these findings, haplotype analysis of her and her family members was performed by examining select candidate genes from the critical interval for epiphyseal dysplasia of the femoral head on 12q13 and sequencing the promoter and exonic regions of COL2A1.]. 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:25124518; 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:NP1210832.RA0ElkZICEcDZZpI2F3K9HybC3jMaLK3i3lTHR9ZV-3ao130_publicationInfo { this: dcterms:created "2016-05-13T12:50:54+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" . }