@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A
> .
@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:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_head
{
this:
np:hasAssertion
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_assertion
;
np:hasProvenance
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_provenance
;
np:hasPublicationInfo
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_assertion
a
np:Assertion
.
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_provenance
a
np:Provenance
.
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_assertion
{
miriam-gene:9863
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN3402c2c181173a9189f25f6ab74ac74c
sio:SIO_000628
miriam-gene:9863
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_provenance
{
dgn-np:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_assertion
dcterms:description
"[The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history.]. 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:18565486
;
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:NP882429.RAe25Ufg57kQQpQ-8ACfeAVZPgV0eMT2LOZZlbGBhnx-A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:59+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" .
}