@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y
> .
@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:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_head
{
this:
np:hasAssertion
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion
;
np:hasProvenance
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion
a
np:Assertion
.
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance
a
np:Provenance
.
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGN188e8b172482d2012c5a119316e2f69e
sio:SIO_000628
miriam-gene:6792
,
lld:C0035372
;
a
sio:SIO_001122
.
}
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance
{
dgn-np:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_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 Rett Syndrome (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:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:22+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" .
}