@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE
> .
@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:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_head
{
this:
np:hasAssertion
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion
;
np:hasProvenance
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance
;
np:hasPublicationInfo
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion
a
np:Assertion
.
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance
a
np:Provenance
.
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion
{
miriam-gene:3785
a
ncit:C16612
.
lld:C0684219
a
ncit:C7057
.
dgn-gda:DGNe11360d2051204911b2556c400f57896
sio:SIO_000628
miriam-gene:3785
,
lld:C0684219
;
a
sio:SIO_001121
.
}
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance
{
dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion
dcterms:description
"[We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC.]. 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:11572947
;
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:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:51+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
;
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" .
}