@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84
> .
@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:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_head
{
this:
np:hasAssertion
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_assertion
;
np:hasProvenance
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_provenance
;
np:hasPublicationInfo
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_assertion
a
np:Assertion
.
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_provenance
a
np:Provenance
.
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_assertion
{
miriam-gene:8890
a
ncit:C16612
.
lld:C0023520
a
ncit:C7057
.
dgn-gda:DGNf48d5c265bfba592e4d27b2aaf9c282f
sio:SIO_000628
miriam-gene:8890
,
lld:C0023520
;
a
sio:SIO_001121
.
}
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_provenance
{
dgn-np:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_assertion
dcterms:description
"[Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy.]. 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:18263758
;
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:NP523780.RAe8VJHDSg6-5fiONdquawoi71oW32M3CR7JMgNuKfP84130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:14+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" .
}