@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co
> .
@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:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_head
{
this:
np:hasAssertion
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_assertion
;
np:hasProvenance
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_provenance
;
np:hasPublicationInfo
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_assertion
a
np:Assertion
.
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_provenance
a
np:Provenance
.
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_assertion
{
miriam-gene:9401
a
ncit:C16612
.
lld:C0006826
a
ncit:C7057
.
dgn-gda:DGN3c8d1f95fe88da0af4bde9d79e59e064
sio:SIO_000628
miriam-gene:9401
,
lld:C0006826
;
a
sio:SIO_001121
.
}
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_provenance
{
dgn-np:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_assertion
dcterms:description
"[A subset of RTS patients presents mutations of the RECQL4 gene, member of the RecQ family of DNA helicases, including the RECQL2 (BLM) and RECQL3 (WRN) genes, defective in the cancer prone Bloom and Werner syndromes, respectively.]. 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:18616953
;
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:NP256587.RAcVoKpIRqY9mkA4x5qbtrFqRhLPpEz0SrBWSr3BJD3co130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:23+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" .
}