@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE
> .
@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:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_head
{
this:
np:hasAssertion
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion
;
np:hasProvenance
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance
;
np:hasPublicationInfo
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion
a
np:Assertion
.
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance
a
np:Provenance
.
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGN145439e0b3f87ee4c359ad68ee1773cd
sio:SIO_000628
miriam-gene:6323
,
lld:C0751122
;
a
sio:SIO_001122
.
}
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance
{
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion
dcterms:description
"[In three patients with either Dravet syndrome or myoclonic epilepsy, we detected SCN1A mutations (p.R222X, p.P231P, p.R393H), even though other laboratories had previously excluded aberrations of this gene by Sanger sequencing or high-resolution melting analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:22612257
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:53+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" .
}