@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0
> .
@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:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_head
{
this:
np:hasAssertion
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_assertion
;
np:hasProvenance
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_provenance
;
np:hasPublicationInfo
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_assertion
a
np:Assertion
.
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_provenance
a
np:Provenance
.
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_assertion
{
miriam-gene:2296
a
ncit:C16612
.
lld:C0015393
a
ncit:C7057
.
dgn-gda:DGN482a21a77c7d5eb6661e191f34a8737f
sio:SIO_000628
miriam-gene:2296
,
lld:C0015393
;
a
sio:SIO_001122
.
}
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_provenance
{
dgn-np:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_assertion
dcterms:description
"[FOXC1 and PITX2 genetic defects explain 40% of our large ASD cohort. The current spectrum of intragenic FOXC1 and PITX2 mutations was extended considerably, the identified copy number changes were fine mapped, the smallest FOXC1 and PITX2 deletions report]. 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:20881294
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP186744.RAirGDdRX1hmAMl6lOadk1W_KDqKDcvMoZf0Y8ZjOQoW0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:11+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" .
}