@prefix dc: . @prefix orcid: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_head { this: np:hasAssertion dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_assertion; np:hasProvenance dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_provenance; np:hasPublicationInfo dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_publicationInfo; a np:Nanopublication . dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_assertion a np:Assertion . dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_provenance a np:Provenance . dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_publicationInfo a np:PublicationInfo . } dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_assertion { miriam-gene:6576 a ncit:C16612 . lld:C0472761 a ncit:C7057 . dgn-gda:DGNed782de48e697cb047e24750e2a5773f sio:SIO_000628 miriam-gene:6576, lld:C0472761; a sio:SIO_001121 . } dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_provenance { dgn-np:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_assertion dc:description "[These included 21 cases with alpha(+)-thalassemia heterozygote (-alpha(3.7)/alphaalpha), one case with alpha(+)-thalassemia heterozygote (-alpha(4.2)/alphaalpha), six cases with Hb Constant Spring heterozygote (alpha(CS)alpha/alphaalpha), four cases with homozygous alpha(+)-thalassemia (-alpha(3.7)/-alpha(3.7)), one case with homozygous alpha(+)-thalassemia (-alpha(4.2)/-alpha(4.2)), two cases with compound alpha(+)-thalassemia/Hb Constant Spring (-alpha(3.7)/alpha(CS)alpha), one case with compound alpha(+)-thalassemia/Hb Paksé (-alpha(3.7)/alpha(PS)alpha), four cases with alpha(0)-thalassemia heterozygote (--(SEA)/alphaalpha), and, unexpectedly, two cases with compound alpha(0)-thalassemia/alpha(+)-thalassemia [(--(SEA)/-alpha(3.7)) and (--(SEA)/-alpha(4.2))].]. 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:16565831; 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:NP807724.RAJgFyTOEw2_Sh27A1-YyQYxzaLH0759Jyhu21-fKdhoM130_publicationInfo { this: dc:created "2014-10-02T12:40:15+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }