@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g
> .
@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/
> .
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_head
{
this:
np:hasAssertion
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_assertion
;
np:hasProvenance
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_provenance
;
np:hasPublicationInfo
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_assertion
a
np:Assertion
.
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_provenance
a
np:Provenance
.
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:4360
a
ncit:C16612
.
lld:C1333990
a
ncit:C7057
.
dgn-gda:DGNb49b6e36b49407a51d773fc4aea3622d
sio:SIO_000628
miriam-gene:4360
,
lld:C1333990
;
a
sio:SIO_001121
.
}
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_provenance
{
dgn-np:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_assertion
dcterms:description
"[To explore possible relationships between genetic mutation and phenotypic variation, we employed different bioinformatics algorithms like Sorting Intolerant from Tolerant (SIFT), Polymorphism Phenotyping (PolyPhen), and PupaSuite to predict the impact of these amino acid substitutions on protein activity of mismatch repair (MMR) genes causing hereditary nonpolyposis colorectal cancer (HNPCC).]. 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:19389263
;
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:NP734308.RAC-6rz3KnLWT7KJ_K0VY4x7gtvphbXaAF_0RfhprIk3g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:18+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:disgenetv3.0rdf
;
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" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}