@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_head
{
this:
np:hasAssertion
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_assertion
;
np:hasProvenance
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_provenance
;
np:hasPublicationInfo
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_assertion
a
np:Assertion
.
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_provenance
a
np:Provenance
.
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_assertion
{
miriam-gene:3043
a
ncit:C16612
.
lld:C0271994
a
ncit:C7057
.
dgn-gda:DGN32250ad3608ac58e25f22d0e7987949f
sio:SIO_000628
miriam-gene:3043
,
lld:C0271994
;
a
sio:SIO_001121
.
}
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_provenance
{
dgn-np:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_assertion
dcterms:description
"[We found that the 5' breakpoint is located between nucleotides 986 and 987 upstream from the startpoint of the beta-globin gene, which further confirmed the Southeast Asian (SEA) HPFH deletion previously determined, whereas the 3' breakpoint, which is clarified for the first time by us, lies approximately 2.3 kb downstream from the 3' HS1 site of the beta-globin gene.]. 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:11074532
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP300258.RAIX9pa8bD7bNnHKoDfuuWptiX3yHKo0pvr6m80YNGiJI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:01+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}