@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:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_head { this: np:hasAssertion dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_assertion; np:hasProvenance dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_provenance; np:hasPublicationInfo dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_publicationInfo; a np:Nanopublication . dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_assertion a np:Assertion . dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_provenance a np:Provenance . dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_publicationInfo a np:PublicationInfo . } dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_assertion { miriam-gene:3040 a ncit:C16612 . lld:C1456873 a ncit:C7057 . dgn-gda:DGNfa7cf8f54ebbf2bf25c3761a543af56a sio:SIO_000628 miriam-gene:3040, lld:C1456873; a sio:SIO_001121 . } dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_provenance { dgn-np:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_assertion dcterms:description "[The base substitution which leads to the synthesis of the alpha-Duan chain occurred at codon 75 of the alpha 1 globin gene of the chromosome which also carried the alpha-thalassemia-2 deletion; the concentration of alpha-Duan (37% of total alpha) is similar to that observed for other alpha chain variants, linked to an alpha-thalassemia-2 condition.]. 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:3384694; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP179618.RAB-8cmsI4EOze0DN_lHJP6YW_WhK1YxOIjU8EEJKA8UU130_publicationInfo { this: dcterms:created "2014-10-02T12:33:37+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }