@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4
> .
@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:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_head
{
this:
np:hasAssertion
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_assertion
;
np:hasProvenance
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_provenance
;
np:hasPublicationInfo
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_assertion
a
np:Assertion
.
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_provenance
a
np:Provenance
.
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_assertion
{
miriam-gene:9181
a
ncit:C16612
.
lld:C1858991
a
ncit:C7057
.
dgn-gda:DGN9595ef253bf31d6bf921bcb2a7fe3af2
sio:SIO_000628
miriam-gene:9181
,
lld:C1858991
;
a
sio:SIO_001121
.
}
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_provenance
{
dgn-np:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_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
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:NP811477.RAOTPRRoFvrxVhnXXP57D7W5IR7U78VEhLR-2AzgUqYc4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:17+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" .
}