@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU
> .
@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/v3.0.0/void/
> .
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_head
{
this:
np:hasAssertion
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_assertion
;
np:hasProvenance
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_provenance
;
np:hasPublicationInfo
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_assertion
a
np:Assertion
.
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_provenance
a
np:Provenance
.
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C1868682
a
ncit:C7057
.
dgn-gda:DGNfb3ea0b3998a0360b11443b238730c3f
sio:SIO_000628
miriam-gene:112476
,
lld:C1868682
;
a
sio:SIO_001121
.
}
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_provenance
{
dgn-np:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_assertion
dcterms:description
"[Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD).]. 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:23566103
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP963774.RAFuzSVeYYo5bkySjEP0aUAthPCtPavnQcUHk4zBRNrZU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:29+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}