@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24
> .
@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:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_head
{
this:
np:hasAssertion
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_assertion
;
np:hasProvenance
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_provenance
;
np:hasPublicationInfo
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_assertion
a
np:Assertion
.
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_provenance
a
np:Provenance
.
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C3489726
a
ncit:C7057
.
dgn-gda:DGN290f8307aab221340a1dbe826e49229e
sio:SIO_000628
miriam-gene:2200
,
lld:C3489726
;
a
sio:SIO_001121
.
}
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_provenance
{
dgn-np:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_assertion
dcterms:description
"[Similar to the previously reported cases of GD, the mutation in the current patient was located in the TB5 domain, which suggests that abnormalities in this domain of FBN1 are responsible for GD.]. 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:23124041
;
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:NP461796.RAgq0xISYIlWBt4D7lhirhDf-5zkoHC5_0LeKxn6fxM24130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:35+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" .
}