@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s
> .
@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:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_head
{
this:
np:hasAssertion
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_assertion
;
np:hasProvenance
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_provenance
;
np:hasPublicationInfo
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_assertion
a
np:Assertion
.
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_provenance
a
np:Provenance
.
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGN4c5d4b1947906b8dfa8738cb6eef0cbd
sio:SIO_000628
miriam-gene:5979
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_provenance
{
dgn-np:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_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:NP927994.RAw_2N0iQCF4-f61dsd4rK8hOBHjvVVyTaYKsZfFkkQ4s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:29+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" .
}