@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY
> .
@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:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_head
{
this:
np:hasAssertion
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_assertion
;
np:hasProvenance
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_provenance
;
np:hasPublicationInfo
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_assertion
a
np:Assertion
.
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_provenance
a
np:Provenance
.
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0863106
a
ncit:C7057
.
dgn-gda:DGN174a29e72972c33d9fdcb8bca0780c1b
sio:SIO_000628
miriam-gene:6323
,
lld:C0863106
;
a
sio:SIO_001121
.
}
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_provenance
{
dgn-np:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_assertion
dcterms:description
"[Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression.]. 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:19214208
;
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:NP797240.RAW7rW36NnTv8zhoLl7svMeV7toBSGx_H13inX4cmWXfY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:09+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" .
}