@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s
> .
@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:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_head
{
this:
np:hasAssertion
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_assertion
;
np:hasProvenance
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_provenance
;
np:hasPublicationInfo
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_assertion
a
np:Assertion
.
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_provenance
a
np:Provenance
.
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_assertion
{
miriam-gene:773
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN66618ea4461588ebcb0670043052f653
sio:SIO_000628
miriam-gene:773
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_provenance
{
dgn-np:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_assertion
dcterms:description
"[DNA sequencing and gene expression data demonstrate that Cacnl1a4 mutations are the primary cause of seizures and ataxia in tottering and leaner mutant mice, and suggest that tottering locus mutations and human diseases, episodic ataxia 2 and familial hemiplegic migraine, represent mutations in mouse and human versions of the same channel-encoding gene.]. 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:9060410
;
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:NP885378.RA3s8RkKvdtQ9Bm8lHeG4CcbFGXzmIwqVAR3_3Eh7Np2s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:00+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" .
}