@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:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_head { this: np:hasAssertion dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_assertion; np:hasProvenance dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_provenance; np:hasPublicationInfo dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_publicationInfo; a np:Nanopublication . dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_assertion a np:Assertion . dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_provenance a np:Provenance . dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_publicationInfo a np:PublicationInfo . } dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_assertion { miriam-gene:3674 a ncit:C16612 . lld:C0005283 a ncit:C7057 . dgn-gda:DGN1742a4bff258aacca3da242af259c809 sio:SIO_000628 miriam-gene:3674, lld:C0005283; a sio:SIO_001121 . } dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_provenance { dgn-np:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_assertion dcterms:description "[Seventy-one DNA samples from β-thalassemia traits or patients were analyzed using the described approaches and 65 were identified to carry the 4 common β-thalassemia alleles including 56 heterozygous mutations [23 for CD41-42 (-4 bp), 18 for IVS-2-654C→T, 11 for CD17A→T, and 4 for -28A→G], 3 homozygous mutations for IVS-2-654C→T, and 6 compound heterozygous mutations [CD41-42 (-4 bp)/IVS-2-654C→T (4 cases), -28A→G/CD17A→T (1 case), IVS-2-654C→T/CD17A→T (1 case)].]. 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:21034280; 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:NP516372.RAPzbbJPd1Cg3B57mEtEsahDhBS10rfyulx3gSDN81Qqg130_publicationInfo { this: dcterms:created "2015-08-25T14:42:45+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" . }