@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0
> .
@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:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_head
{
this:
np:hasAssertion
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_assertion
;
np:hasProvenance
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_provenance
;
np:hasPublicationInfo
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_assertion
a
np:Assertion
.
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_provenance
a
np:Provenance
.
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C0220669
a
ncit:C7057
.
dgn-gda:DGNf4f58e1fa6cdd2c43a18f04a4a6c5607
sio:SIO_000628
miriam-gene:112476
,
lld:C0220669
;
a
sio:SIO_001121
.
}
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_provenance
{
dgn-np:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_assertion
dcterms:description
"[PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with benign familial infantile convulsions (BFIC) and infantile convulsions and choreoathetosis (ICCA).]. 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:22902309
;
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:NP963652.RAWv3l0bYuSEx4FjSPUX0eNAkA_nqBFnI2dtEJhbVMrm0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:28+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" .
}