@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI
> .
@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:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_head
{
this:
np:hasAssertion
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion
;
np:hasProvenance
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion
a
np:Assertion
.
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance
a
np:Provenance
.
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0346153
a
ncit:C7057
.
dgn-gda:DGN1386ba3ea8ce91d283debe90aa7ca0e5
sio:SIO_000628
miriam-gene:675
,
lld:C0346153
;
a
sio:SIO_001122
.
}
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_provenance
{
dgn-np:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_assertion
dcterms:description
"[The results of our studies suggest that a large proportion of familial breast cancer in Iceland is the result of the 999del5 BRCA2 mutation, and it is unlikely that BRCA1 and BRCA2 germline mutations other than 999del5 and G5193A play a significant role in hereditary breast cancer in Iceland.]. 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:9643283
;
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:NP1398219.RAJEbYp5s-O3hyg_JILP_gijszS9rV3yR5jZjSoH4PcoI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:20+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" .
}