@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY
> .
@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:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_head
{
this:
np:hasAssertion
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_assertion
a
np:Assertion
.
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_provenance
a
np:Provenance
.
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_assertion
{
miriam-gene:7547
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGNfd5509bd74d7434872283a5fa91a3773
sio:SIO_000628
miriam-gene:7547
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_provenance
{
dgn-np:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_assertion
dcterms:description
"[To determine the relative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding region of ZIC3 in 194 unrelated patients, including 61 patients with classic heterotaxy, 93 patients with heart defects characteristic of heterotaxy, and 11 patients with situs inversus totalis.]. 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:14681828
;
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:NP885220.RADtk6PA0vK74j9VFsfmIiN-HLyXVozQmIc3CqIZwyKpY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:00+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" .
}