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http://rdf.disgenet.org/nanopublications.trig#NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc
> .
@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:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion
;
np:hasProvenance
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance
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np:hasPublicationInfo
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion
a
np:Assertion
.
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance
a
np:Provenance
.
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo
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np:PublicationInfo
.
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{
miriam-gene:55349
a
ncit:C16612
.
lld:C0018816
a
ncit:C7057
.
dgn-gda:DGNf617b06d79015f36de3bb338a5db35f4
sio:SIO_000628
miriam-gene:55349
,
lld:C0018816
;
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.
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dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance
{
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion
dcterms:description
"[The present study has identified NKX2.5 and GATA4 constitutional variants in our CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues.]. 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:21276881
;
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:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo
{
this:
dcterms:created
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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
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
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> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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> ;
pav:version
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