@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8
> .
@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:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_head
{
this:
np:hasAssertion
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_assertion
;
np:hasProvenance
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_provenance
;
np:hasPublicationInfo
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_assertion
a
np:Assertion
.
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_provenance
a
np:Provenance
.
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_assertion
{
miriam-gene:2956
a
ncit:C16612
.
lld:C0006826
a
ncit:C7057
.
dgn-gda:DGNad43c10f60927a238293495b52ef84e4
sio:SIO_000628
miriam-gene:2956
,
lld:C0006826
;
a
sio:SIO_001121
.
}
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_provenance
{
dgn-np:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_assertion
dcterms:description
"[Previously we showed that most missense variants in MSH6 do not impair MMR capability and are associated with no or low cancer susceptibility, whereas in MLH1, functional studies distinguished nontruncating mutations with severe defects from those not or slightly impaired in protein expression or function.]. 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:17101317
;
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:NP218306.RAhEWrrPAjdYKdmvFrFWhmXI8eTRB5RdHu6-qLgWRjLf8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:01+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" .
}