@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU
> .
@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:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_head
{
this:
np:hasAssertion
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_assertion
;
np:hasProvenance
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_provenance
;
np:hasPublicationInfo
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_assertion
a
np:Assertion
.
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_provenance
a
np:Provenance
.
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0009952
a
ncit:C7057
.
dgn-gda:DGNe8b3911b3700a4e74eeec6f7b3cf6e0e
sio:SIO_000628
miriam-gene:6323
,
lld:C0009952
;
a
sio:SIO_001121
.
}
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_provenance
{
dgn-np:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_assertion
dcterms:description
"[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. 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:16302874
;
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:NP234416.RA_fbZ70YETvuWxOZj7Fr7BfA7y8qLh3QsaAH-jPq0ACU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:11+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" .
}