@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y
> .
@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:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_head
{
this:
np:hasAssertion
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion
;
np:hasProvenance
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion
a
np:Assertion
.
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance
a
np:Provenance
.
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion
{
miriam-gene:2566
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN314d145156d3c47dd53154d906acf85a
sio:SIO_000628
miriam-gene:2566
,
lld:C0036572
;
a
sio:SIO_001122
.
}
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_provenance
{
dgn-np:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_assertion
dcterms:description
"[Although missense mutations in the GABA(A) receptor gamma2 subunits (GABRG2) gene have recently been detected in two families with typical absence seizures, no study has been carried out to clarify the relationship between atypical absence and GABA(A) receptors.]. 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:15955415
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP43710.RASyqtLOfQkggpHM45miNtnTfGyTGOsN057aW6oor2H5Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:20+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" .
}