@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E
> .
@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:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_head
{
this:
np:hasAssertion
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_assertion
;
np:hasProvenance
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_provenance
;
np:hasPublicationInfo
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_assertion
a
np:Assertion
.
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_provenance
a
np:Provenance
.
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_assertion
{
miriam-gene:84059
a
ncit:C16612
.
lld:C0751791
a
ncit:C7057
.
dgn-gda:DGNc7dc1c915bda4812d8163ac6876d70c1
sio:SIO_000628
miriam-gene:84059
,
lld:C0751791
;
a
sio:SIO_001121
.
}
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_provenance
{
dgn-np:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_assertion
dcterms:description
"[Two apparent exceptions to this rule are the MASS1 gene, which is mutated in the Frings mouse model of audiogenic epilepsy, and the LGI1 gene, which is mutated in autosomal dominant partial epilepsy with auditory features (ADPEAF).]. 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:12095917
;
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:NP758657.RA510GtbzYANbe-214IFtR6r3Drd1shtkgTXL7ztF2l1E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:39+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" .
}