@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_assertion
a
np:Assertion
.
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_provenance
a
np:Provenance
.
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_assertion
{
miriam-gene:114327
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN2b6ad65c2e088bc1dcc4562cb48fedd8
sio:SIO_000628
miriam-gene:114327
,
lld:C0014544
;
a
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.
}
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_provenance
{
dgn-np:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_assertion
dcterms:description
"[Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals.]. 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:15258581
;
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:NP840594.RAyE_CtvkIoCtXr2n4pYiIkhJdKcfk_saRS0HaOwbkpto130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:34+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
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"v2.1.0" .
}