@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_head
{
this:
np:hasAssertion
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_assertion
;
np:hasProvenance
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_provenance
;
np:hasPublicationInfo
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_assertion
a
np:Assertion
.
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_provenance
a
np:Provenance
.
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0543888
a
ncit:C7057
.
dgn-gda:DGN445f7d94ed18ac6e49227f43176ecc38
sio:SIO_000628
miriam-gene:6323
,
lld:C0543888
;
a
sio:SIO_001121
.
}
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_provenance
{
dgn-np:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_assertion
dcterms:description
"[More than 200 mutations in the Nav1.1 alpha subtype have been linked to inherited epilepsy syndromes, ranging in severity from the comparatively mild disorder Generalized Epilepsy with Febrile Seizures Plus to the epileptic encephalopathy Severe Myoclonic Epilepsy of Infancy.]. 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:18342948
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP682516.RA7HfNzkQkXz6YvLYNkCztT5OxSS0pHKjmbKnqS1Vp1JU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:31+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}