@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k
> .
@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/v3.0.0/void/
> .
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_head
{
this:
np:hasAssertion
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion
;
np:hasProvenance
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance
;
np:hasPublicationInfo
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion
a
np:Assertion
.
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance
a
np:Provenance
.
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion
{
miriam-gene:3043
a
ncit:C16612
.
lld:C0271985
a
ncit:C7057
.
dgn-gda:DGN17975e2a33b747870d3b62de9817c5b9
sio:SIO_000628
miriam-gene:3043
,
lld:C0271985
;
a
sio:SIO_001121
.
}
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_provenance
{
dgn-np:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_assertion
dcterms:description
"[We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1].]. 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:4000967
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP444412.RAli3Cr6x6qehiWgAWKLTK6TrbV5FyoyaLf805nIyFL7k130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:59+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}