@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_head
{
this:
np:hasAssertion
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_assertion
;
np:hasProvenance
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_provenance
;
np:hasPublicationInfo
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_assertion
a
np:Assertion
.
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_provenance
a
np:Provenance
.
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_assertion
{
miriam-gene:672
a
ncit:C16612
.
lld:C0033036
a
ncit:C7057
.
dgn-gda:DGN41a1bf55a55c15eb39efecb538f28870
sio:SIO_000628
miriam-gene:672
,
lld:C0033036
;
a
sio:SIO_001121
.
}
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_provenance
{
dgn-np:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_assertion
dcterms:description
"[To determine the incidence of copy number variants in cancer predisposition genes from families in the Wessex region, we have analysed the hMLH1 and hMSH2 genes in patients with hereditary nonpolyposis colorectal cancer (HNPCC), BRCA1 and BRCA2 in families with hereditary breast/ovarian cancer (BRCA) and APC in patients with familial adenomatous polyposis coli (FAP).]. 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:15475941
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP403474.RAnp5QWWuyHjzVB0UnhUJx3CuE-QlRcb3kmfiaFtlQazU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:00+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}