@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM
> .
@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:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_head
{
this:
np:hasAssertion
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_assertion
;
np:hasProvenance
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_provenance
;
np:hasPublicationInfo
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_assertion
a
np:Assertion
.
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_provenance
a
np:Provenance
.
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0006142
a
ncit:C7057
.
dgn-gda:DGN3d0c6523342751ba8cc6e60322591119
sio:SIO_000628
miriam-gene:675
,
lld:C0006142
;
a
sio:SIO_001122
.
}
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_provenance
{
dgn-np:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_assertion
dcterms:description
"[Such compensation of the 1100delC defect in CHEK2 might explain the rather low breast cancer risk associated with the CHEK2 variant, compared to that associated with truncating mutations in BRCA1 or 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:15700044
;
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:NP479921.RADy45nwHR7NK6y-JcIbyqfA2F_iuzlrcr0gf0k3kiIEM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:22+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" .
}