@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994
> .
@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/
> .
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{
this:
np:hasAssertion
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion
a
np:Assertion
.
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_provenance
a
np:Provenance
.
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion
{
miriam-gene:4292
a
ncit:C16612
.
lld:C1333990
a
ncit:C7057
.
dgn-gda:DGNf6b992cec8fe017e9fb2e0c8bcbc8c31
sio:SIO_000628
miriam-gene:4292
,
lld:C1333990
;
a
sio:SIO_001121
.
}
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_provenance
{
dgn-np:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_assertion
dcterms:description
"[A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds.]. 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:15942939
;
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:NP498416.RAGyBCuw7PFjHVMjQr1QF-7JgIZ_JD4Pw9HijuDWFY994130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:30+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
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;
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" .
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pav:version
"v4.0.0" .
}