@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs
> .
@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:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_head
{
this:
np:hasAssertion
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_assertion
;
np:hasProvenance
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_provenance
;
np:hasPublicationInfo
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_assertion
a
np:Assertion
.
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_provenance
a
np:Provenance
.
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_assertion
{
miriam-gene:2626
a
ncit:C16612
.
lld:C0741916
a
ncit:C7057
.
dgn-gda:DGN9330d709861fbbaadcbd9832c657cfd3
sio:SIO_000628
miriam-gene:2626
,
lld:C0741916
;
a
sio:SIO_001121
.
}
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_provenance
{
dgn-np:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_assertion
dcterms:description
"[The absence of cardiac defects in the cousins confirms the more proximal location of gene(s) causing these abnormalities in other reported cases with microscopically visible 8pter deletions and supports involvement of the GATA4 gene.]. 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:11251999
;
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:NP545564.RA1Oma99lROoUhvD9Of5yo36SkoC-9W4S81cX_qej7fPs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:29+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" .
}