@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_assertion
;
np:hasProvenance
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_provenance
;
np:hasPublicationInfo
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_assertion
a
np:Assertion
.
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_provenance
a
np:Provenance
.
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:3785
a
ncit:C16612
.
lld:C0376532
a
ncit:C7057
.
dgn-gda:DGNb77f79eebf4f635e59800348c49c9da3
sio:SIO_000628
miriam-gene:3785
,
lld:C0376532
;
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.
}
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_provenance
{
dgn-np:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_assertion
dcterms:description
"[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. 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:19464834
;
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:NP387785.RAeICd33BN5VGoupIFsYlaiWDVUMpdsD3yxa9OCMBwva8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:51+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
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pav:authoredBy
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> , <
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> , <
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
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}