@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU
> .
@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:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_head
{
this:
np:hasAssertion
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_assertion
;
np:hasProvenance
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_provenance
;
np:hasPublicationInfo
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_assertion
a
np:Assertion
.
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_provenance
a
np:Provenance
.
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_assertion
{
miriam-gene:2550
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN26f0c87394df89b916ca65cc673ac409
sio:SIO_000628
miriam-gene:2550
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_provenance
{
dgn-np:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_assertion
dcterms:description
"[Presence of epilepsy, although rare in patients with 6p duplication may be linked to genes involved in brain function and synaptic transmission in the 6p21.2p22.1 duplicated region (GABBR1, BRD2 and GRM4).]. 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:18463015
;
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:NP855516.RAfQoSGePOXgsnnis8DdMOMz-hDFoAJ_FSAwktzcnpWNU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:43+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}