@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw
> .
@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:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_head
{
this:
np:hasAssertion
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion
a
np:Assertion
.
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_provenance
a
np:Provenance
.
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion
{
miriam-gene:23493
a
ncit:C16612
.
lld:C0010068
a
ncit:C7057
.
dgn-gda:DGNd1b1415a4d229f4b52ea9144b10e1d63
sio:SIO_000628
miriam-gene:23493
,
lld:C0010068
;
a
sio:SIO_001121
.
}
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_provenance
{
dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion
dcterms:description
"[To clarify the role of HEY2 in human CHD and AGS, we screened by direct sequencing 23 children with CHD and 38 patients diagnosed with AGS, which lack mutations in the JAG1 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:15389319
;
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 .
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dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:00+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: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" .
}