@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E
> .
@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:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_head
{
this:
np:hasAssertion
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion
;
np:hasProvenance
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance
;
np:hasPublicationInfo
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion
a
np:Assertion
.
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance
a
np:Provenance
.
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion
{
miriam-gene:10133
a
ncit:C16612
.
lld:C0206638
a
ncit:C7057
.
dgn-gda:DGN68948c3131307c9d185ec67d257db967
sio:SIO_000628
miriam-gene:10133
,
lld:C0206638
;
a
sio:SIO_001121
.
}
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance
{
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion
dcterms:description
"[Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree.]. 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:22936311
;
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:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:41+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" .
}