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http://rdf.disgenet.org/nanopublications.trig#NP501281.RAoRpYqQr2GtRPNu6JK3ko7FV40r3erB-dJzD49mnKmuQ
> .
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> .
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> .
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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/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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
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a
np:Nanopublication
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np:Assertion
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{
miriam-gene:4595
a
ncit:C16612
.
lld:C0206677
a
ncit:C7057
.
dgn-gda:DGN49d22a9ce4bb0ba971f2e73c34e0cda4
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dgn-np:NP501281.RAoRpYqQr2GtRPNu6JK3ko7FV40r3erB-dJzD49mnKmuQ130_provenance
{
dgn-np:NP501281.RAoRpYqQr2GtRPNu6JK3ko7FV40r3erB-dJzD49mnKmuQ130_assertion
dcterms:description
"[Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:16774938
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eco:ECO_0000203
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dgn-void:befree-20140225
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:NP501281.RAoRpYqQr2GtRPNu6JK3ko7FV40r3erB-dJzD49mnKmuQ130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
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dcterms:rights
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> ;
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dgn-void:IBIGroup
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prv:usedData
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> , <
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