@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU
> .
@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/v4.0.0/void/
> .
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_head
{
this:
np:hasAssertion
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_assertion
;
np:hasProvenance
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_provenance
;
np:hasPublicationInfo
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_assertion
a
np:Assertion
.
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_provenance
a
np:Provenance
.
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C3502809
a
ncit:C7057
.
dgn-gda:DGN38271beace85c39ae433cad794a85535
sio:SIO_000628
miriam-gene:6323
,
lld:C3502809
;
a
sio:SIO_001121
.
}
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_provenance
{
dgn-np:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP660847.RAqx5nnC6C4qfefVmaIYCmF_3S89jvBEK19K3cmWFI8ZU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:45+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}