@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:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_head { this: np:hasAssertion dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_assertion; np:hasProvenance dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_provenance; np:hasPublicationInfo dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_publicationInfo; a np:Nanopublication . dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_assertion a np:Assertion . dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_provenance a np:Provenance . dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_publicationInfo a np:PublicationInfo . } dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_assertion { miriam-gene:23592 a ncit:C16612 . lld:C3149631 a ncit:C7057 . dgn-gda:DGNc45287140b8cc602186f5b34422b8a1f sio:SIO_000628 miriam-gene:23592, lld:C3149631; a sio:SIO_001121 . } dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_provenance { dgn-np:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_assertion dcterms:description "[We investigated LEMD3 in a three-generation family with osteopoikilosis from the Azores, an affected father and daughter from Ireland with osteopoikilosis (the daughter also had melorheostosis), and two other individuals from the UK with isolated melorheostosis.]. 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:17622481; 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:NP619405.RAXaiLYHf28aW4INfC_xw7SigfyaWRNMdZ1e8SZqNnIKk130_publicationInfo { this: dcterms:created "2016-05-13T12:46:26+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" . }