@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY
> .
@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:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_head
{
this:
np:hasAssertion
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_assertion
;
np:hasProvenance
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_provenance
;
np:hasPublicationInfo
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_assertion
a
np:Assertion
.
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_provenance
a
np:Provenance
.
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_assertion
{
miriam-gene:1917
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNe8079205d3c6b996191dfb673a1ab2ad
sio:SIO_000628
miriam-gene:1917
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_provenance
{
dgn-np:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_assertion
dcterms:description
"[Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2).]. 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:23647072
;
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:NP851019.RAVJJ-4H4Nfcr_MYvzHj6ffxC4qAUboL1QRtJJzG2P0JY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:40+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" .
}