@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:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_head { this: np:hasAssertion dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_assertion; np:hasProvenance dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_provenance; np:hasPublicationInfo dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_publicationInfo; a np:Nanopublication . dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_assertion a np:Assertion . dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_provenance a np:Provenance . dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_publicationInfo a np:PublicationInfo . } dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_assertion { miriam-gene:3043 a ncit:C16612 . lld:C0271980 a ncit:C7057 . dgn-gda:DGNfba6bca072be89078755c6f61f3c6753 sio:SIO_000628 miriam-gene:3043, lld:C0271980; a sio:SIO_001121 . } dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_provenance { dgn-np:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_assertion dcterms:description "[Sequencing of the beta-globin gene and alpha cluster mapping in the propositus and his brother showed a previously undescribed beta-globin variant:Hb Iraq-Halabja, beta10(A7) Ala-->Val (GCC-->GTC), associated with beta0-thalassemia IVS-2 nt1 G-->A and either alpha-thal-2-3.7 kb deletion (brother), or alpha-globin gene triplication anti-3.7 kb type (propositus).]. 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:10398311; 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:NP257108.RA9z6A5mz4bgxkWd8E21duqbffHSd0EevNBeprnBTevqE130_publicationInfo { this: dcterms:created "2016-05-13T12:43:42+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" . }