@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_head
{
this:
np:hasAssertion
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_assertion
;
np:hasProvenance
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_assertion
a
np:Assertion
.
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_provenance
a
np:Provenance
.
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_assertion
{
miriam-gene:79728
a
ncit:C16612
.
lld:C0029925
a
ncit:C7057
.
dgn-gda:DGNd02121d4a2ebced3e5d824e54f998b45
sio:SIO_000628
miriam-gene:79728
,
lld:C0029925
;
a
sio:SIO_001122
.
}
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_provenance
{
dgn-np:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_assertion
dcterms:description
"[Two truncating mutations in PALB2 (Q66X and W1038X), one of which is has not been reported before, were detected in an independent Australian cohort of 70 individuals with breast or ovarian cancer, and have strong family histories of breast or breast/ovarian cancer.]. 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:21409391
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP945368.RA_SRMAZlxXyhvTr7dECQcNaWZKuStmF3vgXUE1pWJ09Y130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:17+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}