@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c
> .
@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:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_head
{
this:
np:hasAssertion
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_assertion
;
np:hasProvenance
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_provenance
;
np:hasPublicationInfo
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_assertion
a
np:Assertion
.
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_provenance
a
np:Provenance
.
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_assertion
{
miriam-gene:7046
a
ncit:C16612
.
lld:C0024796
a
ncit:C7057
.
dgn-gda:DGNf3dff433e6528e3f5feffa0781f25e47
sio:SIO_000628
miriam-gene:7046
,
lld:C0024796
;
a
sio:SIO_001121
.
}
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_provenance
{
dgn-np:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_assertion
dcterms:description
"[We searched for TGFBR1 and TGFBR2 mutations in 41 unrelated patients fulfilling the diagnostic criteria of Ghent nosology or with the tentative diagnosis of Marfan syndrome, in whom mutations in the FBN1 coding region were not identified.]. 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:16799921
;
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:NP432249.RACzlG7fDATLb8-ZZGbkhtV0mIAfu_A1fT-HQECRkeb1c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:16+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" .
}