@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo
> .
@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:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_head
{
this:
np:hasAssertion
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_assertion
;
np:hasProvenance
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_provenance
;
np:hasPublicationInfo
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_assertion
a
np:Assertion
.
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_provenance
a
np:Provenance
.
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN097b63a4c577b820830108a0f6599079
sio:SIO_000628
miriam-gene:6792
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_provenance
{
dgn-np:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_assertion
dcterms:description
"[To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group.]. 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:16611748
;
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:NP284701.RAkoKbNKGDPYv-WYQkrDz2vAUsZWDhfo-35gppFKs1jgo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:40+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" .
}