@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA
> .
@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:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_head
{
this:
np:hasAssertion
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_assertion
;
np:hasProvenance
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_provenance
;
np:hasPublicationInfo
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_assertion
a
np:Assertion
.
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_provenance
a
np:Provenance
.
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0678222
a
ncit:C7057
.
dgn-gda:DGNe264fc01515c2a45d71baab9a0178d40
sio:SIO_000628
miriam-gene:675
,
lld:C0678222
;
a
sio:SIO_001121
.
}
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_provenance
{
dgn-np:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_assertion
dcterms:description
"[Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breast cancer susceptibility genes BRCA1 and BRCA2.]. 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:11802208
;
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:NP342533.RA1jc8umbsqz1q96-669QF6fdMrNw-qsxFcT6yc47FbvA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:20+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" .
}