@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY
> .
@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:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_head
{
this:
np:hasAssertion
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_assertion
;
np:hasProvenance
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_provenance
;
np:hasPublicationInfo
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_assertion
a
np:Assertion
.
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_provenance
a
np:Provenance
.
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGNfc5e2460c0b8d7301c5b2994c9940d83
sio:SIO_000628
miriam-gene:6323
,
lld:C0751122
;
a
sio:SIO_001121
.
}
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_provenance
{
dgn-np:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_assertion
dcterms:description
"[This study provides the first case of microdeletion limited to the SCN1A 5' promoter region with the coding sequence preserved, and indicates the critical involvement of this upstream region in the molecular pathology of Dravet syndrome.]. 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:20506560
;
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:NP197649.RAmlqfO-xfw6eGV0_iNmK4MPcOAONq_0IU3Q5qynDOYeY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:49+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" .
}