@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc
> .
@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:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_head
{
this:
np:hasAssertion
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_assertion
;
np:hasProvenance
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_provenance
;
np:hasPublicationInfo
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_assertion
a
np:Assertion
.
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_provenance
a
np:Provenance
.
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_assertion
{
miriam-gene:57492
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGN3dfa95586dcbcb89d1d76323062de155
sio:SIO_000628
miriam-gene:57492
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_provenance
{
dgn-np:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_assertion
dcterms:description
"[Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism.]. 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:21801163
;
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:NP913406.RAB_Em3354p8smer-JUnaL2rlP8cE0HpYH8GrceivALSc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:38+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" .
}