@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_head
{
this:
np:hasAssertion
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_assertion
;
np:hasProvenance
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_provenance
;
np:hasPublicationInfo
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_assertion
a
np:Assertion
.
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_provenance
a
np:Provenance
.
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_assertion
{
miriam-gene:4851
a
ncit:C16612
.
lld:C0002940
a
ncit:C7057
.
dgn-gda:DGN434cd353304d529f34374f77718e6a38
sio:SIO_000628
miriam-gene:4851
,
lld:C0002940
;
a
sio:SIO_001121
.
}
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_provenance
{
dgn-np:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_assertion
dcterms:description
"[We sought to determine the contribution of NOTCH1 mutations to the more common phenotype of highly penetrant aneurysms with low penetrance of bicuspid aortic valve and with rare valve calcification or dysfunction.]. 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:23102684
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP595070.RA4IqmqgTfJvhmuc1h_apERoKnhFLKk544Ehv00iNFl8U130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:35+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}