@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM130_head
{
this:
np:hasAssertion
dgn-np:NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM130_assertion
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np:hasProvenance
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np:Nanopublication
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a
np:Assertion
.
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{
miriam-gene:79670
a
ncit:C16612
.
lld:C0472767
a
ncit:C7057
.
dgn-gda:DGNdee4d294d56c7abf7bdfc2cb4e570f61
sio:SIO_000628
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,
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dgn-np:NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM130_provenance
{
dgn-np:NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM130_assertion
dcterms:description
"[We established that (i) the combination: T haplotype of the Agamma-delta-globin intergenic region, the motif (TA)9N10(TA)10 in the HS2 site of locus control region (LCR), and TAG pre-Ggamma haplotype is sufficient but not necessary for high HbF, (ii) the genetic determinant(s) for high HbF involves an element associated with this combination and must be present in the specific R haplotype occurring in beta-thalassemia intermedia and (iii) the genetic determinant(s) for high HbF does not involve the abolition of intergenic transcription in the Agamma-delta-globin intergenic region.]. 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:16519704
;
prov:wasDerivedFrom
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;
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:NP753987.RAJLfqWPktfq4wUE-3R7UQ3fMdakkdC9-DZyKL5F78GrM130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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> , <
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> ;
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