@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w
> .
@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:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_head
{
this:
np:hasAssertion
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_assertion
;
np:hasProvenance
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_provenance
;
np:hasPublicationInfo
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_assertion
a
np:Assertion
.
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_provenance
a
np:Provenance
.
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_assertion
{
miriam-gene:8893
a
ncit:C16612
.
lld:C0270612
a
ncit:C7057
.
dgn-gda:DGN9938868da8b74590488ccb589f839f4d
sio:SIO_000628
miriam-gene:8893
,
lld:C0270612
;
a
sio:SIO_001122
.
}
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_provenance
{
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_assertion
dcterms:description
"[A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His.]. 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:18678442
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
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 .
}
dgn-np:NP810517.RAG_gJL9dA2VnFbjgRG5g_iKcDAUChTqpULQBy2O-yk8w130_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
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}