@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c
> .
@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/v4.0.0/void/
> .
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_head
{
this:
np:hasAssertion
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_assertion
;
np:hasProvenance
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_assertion
a
np:Assertion
.
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_provenance
a
np:Provenance
.
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_assertion
{
miriam-gene:672
a
ncit:C16612
.
lld:C0006142
a
ncit:C7057
.
dgn-gda:DGN10c519710859960e91ac11e20ad83287
sio:SIO_000628
miriam-gene:672
,
lld:C0006142
;
a
sio:SIO_001122
.
}
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_provenance
{
dgn-np:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_assertion
dcterms:description
"[We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes.]. 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:23302520
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1042306.RAmbYy8iMVseW2rfwRpH5kQ4tQ37658W6W-tkxi5QBz9c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:38+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}