@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0
> .
@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:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_head
{
this:
np:hasAssertion
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion
;
np:hasProvenance
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance
;
np:hasPublicationInfo
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion
a
np:Assertion
.
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance
a
np:Provenance
.
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGN0efd190c148aca6a6535f7e1483e8abb
sio:SIO_000628
miriam-gene:6792
,
lld:C0035372
;
a
sio:SIO_001121
.
}
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance
{
dgn-np:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion
dcterms:description
"[Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT.]. 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:16015284
;
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:NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:33+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" .
}