@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs
> .
@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/v3.0.0/void/
> .
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_head
{
this:
np:hasAssertion
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_assertion
a
np:Assertion
.
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_provenance
a
np:Provenance
.
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_assertion
{
miriam-gene:8894
a
ncit:C16612
.
lld:C0023520
a
ncit:C7057
.
dgn-gda:DGN02c2bb17467e374c6c1cc91869fa6252
sio:SIO_000628
miriam-gene:8894
,
lld:C0023520
;
a
sio:SIO_001121
.
}
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_provenance
{
dgn-np:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_assertion
dcterms:description
"[We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.]. 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:20016818
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP810549.RACTTDr5PoZyqWIeoH4T86Pb43Nm23y-xOkurisvs-xGs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:51+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
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;
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
"v3.0.0.0" .
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pav:version
"v3.0.0" .
}