@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" .
}