@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU
> .
@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:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_head
{
this:
np:hasAssertion
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion
;
np:hasProvenance
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance
;
np:hasPublicationInfo
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion
a
np:Assertion
.
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance
a
np:Provenance
.
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion
{
miriam-gene:7048
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGN127de709450dd647854b088f20684ebf
sio:SIO_000628
miriam-gene:7048
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance
{
dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion
dcterms:description
"[In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis.]. 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:18781618
;
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:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:49+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" .
}