@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:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_head { this: np:hasAssertion dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_assertion; np:hasProvenance dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_provenance; np:hasPublicationInfo dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_publicationInfo; a np:Nanopublication . dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_assertion a np:Assertion . dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_provenance a np:Provenance . dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_publicationInfo a np:PublicationInfo . } dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_assertion { miriam-gene:31 a ncit:C16612 . lld:C0878521 a ncit:C7057 . dgn-gda:DGN8bddf0142b51c012e828e134062bf91f sio:SIO_000628 miriam-gene:31, lld:C0878521; a sio:SIO_001121 . } dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_provenance { dgn-np:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_assertion dcterms:description "[Detailed gene mapping analyses of genomic DNA from two Turkish subjects with a beta-thalassemia trait demonstrated an approximately 300 bp deletion, which is located between the Rsa I restriction site 128 bp 5' to the Cap site and the Acc I restriction site 284 bp 3' to the same Cap site; it includes the 5' beta promoter region, the first exon, and (part of) the IVS-I.]. 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:2440502; 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:NP220281.RA4fOOb05aJPGU1rR2LM2e_h-gvf1FLTUUIwqEFECPqvg130_publicationInfo { this: dcterms:created "2015-08-25T14:39:45+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" . }