@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_assertion
;
np:hasProvenance
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_provenance
;
np:hasPublicationInfo
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_assertion
a
np:Assertion
.
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_provenance
a
np:Provenance
.
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_assertion
{
miriam-gene:165918
a
ncit:C16612
.
lld:C2677792
a
ncit:C7057
.
dgn-gda:DGN1d07b1fc5e68ef0045b0e0dfd6885369
sio:SIO_000628
miriam-gene:165918
,
lld:C2677792
;
a
sio:SIO_001121
.
}
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_provenance
{
dgn-np:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_assertion
dcterms:description
"[While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown.]. 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:21626679
;
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:NP822631.RAEP3DrfQmWAGHXiMFE8Dqy-CqbuOzUQIwtKGkkAMDEOA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:24+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" .
}