@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4
> .
@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:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_head
{
this:
np:hasAssertion
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_assertion
;
np:hasProvenance
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_provenance
;
np:hasPublicationInfo
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_assertion
a
np:Assertion
.
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_provenance
a
np:Provenance
.
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_assertion
{
miriam-gene:8892
a
ncit:C16612
.
lld:C1858991
a
ncit:C7057
.
dgn-gda:DGN4ef044ef8faea97360779244a17482ad
sio:SIO_000628
miriam-gene:8892
,
lld:C1858991
;
a
sio:SIO_001121
.
}
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_provenance
{
dgn-np:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_assertion
dcterms:description
"[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. 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:15776425
;
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:NP460788.RACGuzgtMnp7lMZX9r8LLwQMruwnJpAsdkUze76Bj7fc4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:34+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" .
}