@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4
> .
@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/v4.0.0/void/
> .
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_head
{
this:
np:hasAssertion
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion
;
np:hasProvenance
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance
;
np:hasPublicationInfo
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion
a
np:Assertion
.
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance
a
np:Provenance
.
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion
{
miriam-gene:10947
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN84d5229ef360b86a272c51684bc963f6
sio:SIO_000628
miriam-gene:10947
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_provenance
{
dgn-np:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_assertion
dcterms:description
"[Although the present study failed to identify the possible AP3M2 mutations that may cause epilepsy, our results suggest that some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission.]. 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:17293072
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP593274.RAQ17Rdcbjn1L2Q7j8zAOCh454bVoYLzgWDIFk8bcE9Y4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:14+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: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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}