@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:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_head { this: np:hasAssertion dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_assertion; np:hasProvenance dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_provenance; np:hasPublicationInfo dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_publicationInfo; a np:Nanopublication . dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_assertion a np:Assertion . dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_provenance a np:Provenance . dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_assertion { miriam-gene:146 a ncit:C16612 . lld:C3161174 a ncit:C7057 . dgn-gda:DGNc5da079798503a50a881777217b7350b sio:SIO_000628 miriam-gene:146, lld:C3161174; a sio:SIO_001121 . } dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_provenance { dgn-np:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_assertion dcterms:description "[This case represents another example of the nondeletional mutation underlying Hb Adana, which is rarely seen in alpha1 gene, and illustrates the distinctive phenotypes of both the deletional and nondeletional forms of hemoglobin H disease within the same family.]. 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:19636270; 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:NP613095.RAq8QU2l-VBSuOVldezlnJG4bJv6anLo86O02jIYsWr_Q130_publicationInfo { this: dcterms:created "2014-10-02T12:38:10+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" . }