@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI
> .
@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:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_head
{
this:
np:hasAssertion
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_assertion
;
np:hasProvenance
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_provenance
;
np:hasPublicationInfo
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_assertion
a
np:Assertion
.
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_provenance
a
np:Provenance
.
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_assertion
{
miriam-gene:7486
a
ncit:C16612
.
lld:C0043119
a
ncit:C7057
.
dgn-gda:DGNa26c8da58e02c8f478c0eb8f84251733
sio:SIO_000628
miriam-gene:7486
,
lld:C0043119
;
a
sio:SIO_001121
.
}
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_provenance
{
dgn-np:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_assertion
dcterms:description
"[Our results indicate that most WRN mutations result in functionally equivalent null alleles, that WRN heterozygote effects may result from haploinsufficiency and that successful modeling of WRN pathogenesis in the mouse or in other model systems will require the use of WRN mutations that eliminate WRN protein expression.]. 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:10606667
;
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:NP270621.RACp19fMPC5g_abjIMkosrAaBpTgSo1lMMTRLaN0J7TeI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:48+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" .
}