@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:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_head { this: np:hasAssertion dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_assertion; np:hasProvenance dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_provenance; np:hasPublicationInfo dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_publicationInfo; a np:Nanopublication . dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_assertion a np:Assertion . dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_provenance a np:Provenance . dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_publicationInfo a np:PublicationInfo . } dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_assertion { miriam-gene:5367 a ncit:C16612 . lld:C0039730 a ncit:C7057 . dgn-gda:DGN4344c1525a47a13c73f2d3e178d93bfe sio:SIO_000628 miriam-gene:5367, lld:C0039730; a sio:SIO_001121 . } dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_provenance { dgn-np:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_assertion dcterms:description "[Hemoglobin analysis revealed 1.9% hemoglobin A2 and 91.7% hemoglobin F. The second case, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old male who had 46.1% hemoglobin E and 49.8% hemoglobin F. Globin gene analyses showed that both probands carried the same deletional type (deltabeta)(0)-thalassemia trans to the 4 bp deletions in codons 41/42 beta(0)-thalassemia and to the betaE-globin gene, respectively.]. 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:11860449; 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:NP631859.RACu8cEVloIR99jfQAovyDGArCO5m7Xj5xO71y27J08OM130_publicationInfo { this: dcterms:created "2015-08-25T14:43:58+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" . }