@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:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_head { this: np:hasAssertion dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion; np:hasProvenance dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance; np:hasPublicationInfo dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo; a np:Nanopublication . dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion a np:Assertion . dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance a np:Provenance . dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo a np:PublicationInfo . } dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion { miriam-gene:3043 a ncit:C16612 . lld:C0271985 a ncit:C7057 . dgn-gda:DGN17975e2a33b747870d3b62de9817c5b9 sio:SIO_000628 miriam-gene:3043, lld:C0271985; a sio:SIO_001121 . } dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance { dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion dcterms:description "[We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1].]. 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:4000967; 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:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo { this: dcterms:created "2015-08-25T14:41:59+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" . }