@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ
> .
@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:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_head
{
this:
np:hasAssertion
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_assertion
;
np:hasProvenance
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_assertion
a
np:Assertion
.
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_provenance
a
np:Provenance
.
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_assertion
{
miriam-gene:57492
a
ncit:C16612
.
lld:C3714756
a
ncit:C7057
.
dgn-gda:DGN703dde1db7f4c460159392ad79033bf9
sio:SIO_000628
miriam-gene:57492
,
lld:C3714756
;
a
sio:SIO_001121
.
}
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_provenance
{
dgn-np:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_assertion
dcterms:description
"[We conclude that the most prominent and consistent clinical findings in patients with ARID1B haploinsufficiency are developmental delay, speech impairment and intellectual disability and propose that patients with unresolved genetic background and these clinical findings should be considered for ARID1B mutation screening.]. 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:25250687
;
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:NP1223155.RA9zGdfITWagrAKgV0f431DFZHXJdhY6lcxsTCTQ64cuQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:00+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" .
}