@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U
> .
@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:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_head
{
this:
np:hasAssertion
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_assertion
;
np:hasProvenance
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_provenance
;
np:hasPublicationInfo
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_assertion
a
np:Assertion
.
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_provenance
a
np:Provenance
.
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_assertion
{
miriam-gene:6326
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGN7ce8f25bcefb1484301ce2300b331c36
sio:SIO_000628
miriam-gene:6326
,
lld:C0751122
;
a
sio:SIO_001121
.
}
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_provenance
{
dgn-np:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_assertion
dcterms:description
"[To further examine the involvement of homozygous SCN1B mutations in the etiology of Dravet syndrome, we performed mutational analyses on SCN1B in 286 patients with epileptic disorders, including 67 patients with Dravet syndrome who have been negative for SCN1A and SCN2A mutations.]. 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:23148524
;
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:NP1028156.RAI8mnJeKAM-Ock5dChZUKK-DS5vBg3N7LadKAwERjL2U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:31+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}