@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_assertion
;
np:hasProvenance
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_provenance
;
np:hasPublicationInfo
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_assertion
a
np:Assertion
.
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_provenance
a
np:Provenance
.
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_assertion
{
miriam-gene:2626
a
ncit:C16612
.
lld:C0004245
a
ncit:C7057
.
dgn-gda:DGN4d4653bc11de2065755673a915d85436
sio:SIO_000628
miriam-gene:2626
,
lld:C0004245
;
a
sio:SIO_001121
.
}
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_provenance
{
dgn-np:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_assertion
dcterms:description
"[We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their phenotypes clinically.]. 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:15810002
;
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:NP570995.RANAwc85u5mP-VlMG9lwGme_izZqZanViAZ674FoQ8a4I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:44+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" .
}