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> .
@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#
> .
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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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{
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP498415.RAhUKCDGjo4MN8OcggEKT8_4onA8q08lpWEDAR1GbWTaA130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
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{
miriam-gene:4436
a
ncit:C16612
.
lld:C1333990
a
ncit:C7057
.
dgn-gda:DGN210a27df8cb1d90cc9cb283405540947
sio:SIO_000628
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,
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a
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.
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dgn-np:NP498415.RAhUKCDGjo4MN8OcggEKT8_4onA8q08lpWEDAR1GbWTaA130_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 ;
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sio:SIO_000772
miriam-pubmed:15942939
;
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
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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 .
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dgn-np:NP498415.RAhUKCDGjo4MN8OcggEKT8_4onA8q08lpWEDAR1GbWTaA130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
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dgn-void:IBIGroup
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dcterms:subject
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> , <
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> , <
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> ;
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<
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