@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc
> .
@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:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_head
{
this:
np:hasAssertion
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_assertion
;
np:hasProvenance
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_provenance
;
np:hasPublicationInfo
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_assertion
a
np:Assertion
.
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_provenance
a
np:Provenance
.
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_assertion
{
miriam-gene:2158
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGNee93944a505381afe82a06d09796cd0d
sio:SIO_000628
miriam-gene:2158
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_provenance
{
dgn-np:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_assertion
dcterms:description
"[Our data emphasizes the importance of dural ectasia screening to reach the diagnosis of Marfan syndrome especially when it is uncertain and indicates an association between PTC mutations and severe dural ectasia in Marfan patients.]. 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:23684891
;
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:NP644612.RAc2VQi5yHMDAFy8nolJITBfHp5E6jMslVE1scBxxw1hc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}