@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE
> .
@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:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_head
{
this:
np:hasAssertion
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_assertion
;
np:hasProvenance
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_provenance
;
np:hasPublicationInfo
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_assertion
a
np:Assertion
.
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_provenance
a
np:Provenance
.
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_assertion
{
miriam-gene:57492
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGN57f66652fe25b4def4d49d7e8047dc4f
sio:SIO_000628
miriam-gene:57492
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_provenance
{
dgn-np:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_assertion
dcterms:description
"[Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.]. 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:22426309
;
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:NP592074.RAy0T26fL3j8jHVDbLGEySG-bBs5XAstesQb7YpgqLzmE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:56+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" .
}