@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM
> .
@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:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_head
{
this:
np:hasAssertion
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_assertion
;
np:hasProvenance
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_provenance
;
np:hasPublicationInfo
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_assertion
a
np:Assertion
.
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_provenance
a
np:Provenance
.
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_assertion
{
miriam-gene:57465
a
ncit:C16612
.
lld:C0543888
a
ncit:C7057
.
dgn-gda:DGN0ea661ffffee2ae26f1d375c4734bb49
sio:SIO_000628
miriam-gene:57465
,
lld:C0543888
;
a
sio:SIO_001121
.
}
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_provenance
{
dgn-np:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_assertion
dcterms:description
"[Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death.]. 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:24387994
;
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:NP358102.RA5mC-BH4jLFTXLShCS1WOt_oKucsmgoBAy8f3ID24etM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:30+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" .
}