@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:publicationInfo; a np:Nanopublication . } sub:assertion { dgn-gda:DGNfdaebec3e37c5e1da973c9a8c548f17f sio:SIO_000628 miriam-gene:3043, lld:C0005283; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[The following carrier frequencies were observed: ?-thalassemia (?-thal), 4.56% (n = 293); Hb S [?6(A3)Glu?Val, GAG>GTG; HBB: c.20A>T], 2.9% (n = 186); Hb D-Punjab [?121(GH4)Glu?Gln, GAA>CAA; HBB: c.364G>C], 0.78% (n = 50); Hb Lepore (?? hybrid gene) with an undetermined molecular genotype, 0.17% (n = 11); Hb E [?26(B8)Glu?Lys, GAG>AAG; HBB: c.79G>A], 0.03% (n = 2); and hereditary persistence of fetal Hb (HPFH), 0.016% (n = 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:23647352; prov:wasDerivedFrom dgn-void:BEFREE; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:13:13+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }