@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ
> .
@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:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_head
{
this:
np:hasAssertion
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_assertion
;
np:hasProvenance
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_assertion
a
np:Assertion
.
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_provenance
a
np:Provenance
.
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_assertion
{
miriam-gene:2969
a
ncit:C16612
.
lld:C0175702
a
ncit:C7057
.
dgn-gda:DGNeaec0f029b72919e5bab4ed4e42a3085
sio:SIO_000628
miriam-gene:2969
,
lld:C0175702
;
a
sio:SIO_001121
.
}
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_provenance
{
dgn-np:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_assertion
dcterms:description
"[Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome.]. 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:22608712
;
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:NP210018.RAdpzvvI6esYZixQvImx5gJSaBpwDsRpswPQoe3ytUELQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:55+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" .
}