@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY
> .
@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:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_head
{
this:
np:hasAssertion
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_assertion
;
np:hasProvenance
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_provenance
;
np:hasPublicationInfo
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_assertion
a
np:Assertion
.
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_provenance
a
np:Provenance
.
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C1096063
a
ncit:C7057
.
dgn-gda:DGNd347369aaf1abca5daeb19fd44f53039
sio:SIO_000628
miriam-gene:6792
,
lld:C1096063
;
a
sio:SIO_001121
.
}
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_provenance
{
dgn-np:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_assertion
dcterms:description
"[Patients bearing missense mutations in the ATP binding site such as the p.Ala40Val mutation typically walked unaided, had normocephaly, better hand use ability, and less frequent refractory epilepsy when compared to girls with other CDKL5 mutations.]. 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:22678952
;
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:NP654478.RAy5SEwHslBpECVIECn-ct8tdZ_skgJ4byO6y_obFm7iY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:34+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" .
}