@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk
> .
@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:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_head
{
this:
np:hasAssertion
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_assertion
;
np:hasProvenance
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_provenance
;
np:hasPublicationInfo
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_assertion
a
np:Assertion
.
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_provenance
a
np:Provenance
.
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_assertion
{
miriam-gene:2626
a
ncit:C16612
.
lld:C0013069
a
ncit:C7057
.
dgn-gda:DGNabef0e750c4a720cd744def53e9a36a9
sio:SIO_000628
miriam-gene:2626
,
lld:C0013069
;
a
sio:SIO_001121
.
}
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_provenance
{
dgn-np:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_assertion
dcterms:description
"[In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.]. 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:20807224
;
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:NP416208.RAF9Vun-2jmuxO9JBF4DzaFQzvZV0DDB_T7G4Yf-RK4jk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:07+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" .
}