@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI
> .
@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:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_head
{
this:
np:hasAssertion
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion
;
np:hasProvenance
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance
;
np:hasPublicationInfo
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion
a
np:Assertion
.
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance
a
np:Provenance
.
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion
{
miriam-gene:672
a
ncit:C16612
.
lld:C0007113
a
ncit:C7057
.
dgn-gda:DGN556383fda938745113f6cc2e11d0faaa
sio:SIO_000628
miriam-gene:672
,
lld:C0007113
;
a
sio:SIO_001121
.
}
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_provenance
{
dgn-np:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_assertion
dcterms:description
"[Mutation analysis showed the presence of a nonsense mutation within BRCA1 exon 12 in two individuals, mother and daughter, affected by breast and peritoneal cancer, respectively, as well as in the son, who had rectal cancer at the early age of 27 years.]. 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:12217765
;
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:NP390962.RA8-hlR7U04bbGZFd2WiAFrlPPSfeG9O17jHgEg1vbqtI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:53+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" .
}