@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I
> .
@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:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_head
{
this:
np:hasAssertion
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_assertion
;
np:hasProvenance
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_provenance
;
np:hasPublicationInfo
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_assertion
a
np:Assertion
.
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_provenance
a
np:Provenance
.
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_assertion
{
miriam-gene:672
a
ncit:C16612
.
lld:C0346153
a
ncit:C7057
.
dgn-gda:DGNcccc5e206c7d4eeb4be8791b70ebe63f
sio:SIO_000628
miriam-gene:672
,
lld:C0346153
;
a
sio:SIO_001121
.
}
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_provenance
{
dgn-np:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_assertion
dcterms:description
"[Screening for protein-truncating mutations of the BRCA1 and BRCA2 genes is useful in genetic testing for familial breast cancer because, first, the methods are usually simple and not expensive, and second, the detected mutations indicate pathogenic mutations in general.]. 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:12624724
;
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:NP386230.RAPRkET7AcC6kcUm7V-cKKJ7Jye8kriSs0Pkom86xT63I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:40+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" .
}