@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY
> .
@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:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_head
{
this:
np:hasAssertion
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion
;
np:hasProvenance
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance
;
np:hasPublicationInfo
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion
a
np:Assertion
.
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance
a
np:Provenance
.
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion
{
miriam-gene:4851
a
ncit:C16612
.
lld:C0149630
a
ncit:C7057
.
dgn-gda:DGN519f29a9a0549f00d90afc175a14a0a0
sio:SIO_000628
miriam-gene:4851
,
lld:C0149630
;
a
sio:SIO_001121
.
}
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance
{
dgn-np:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion
dcterms:description
"[This targeted analysis involving NOTCH1 exons previously implicated in familial and sporadic bicuspid aortic valve demonstrates overrepresentation of NOTCH1 missense variants among patients with bicuspid aortic valves and thoracic aortic aneurysms.]. 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:17662764
;
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:NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:30+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" .
}