@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE
> .
@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 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:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_head
{
this:
np:hasAssertion
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_assertion
;
np:hasProvenance
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_provenance
;
np:hasPublicationInfo
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_assertion
a
np:Assertion
.
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_provenance
a
np:Provenance
.
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGN7452c5fc1c4aec4ee3e4b6473f057b87
sio:SIO_000628
miriam-gene:6323
,
lld:C0751122
;
a
sio:SIO_001122
.
}
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_provenance
{
dgn-np:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_assertion
dct:description
"[We screened for mutations of SCN1A, SCN2A and GABRG2 (the gene encoding gamma2 subunit of the GABA(A) receptor) in 59 patients with Dravet syndrome and found 29 SCN1A mutations and three missense SCN2A mutations.]. 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:19783390
;
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:NP5936.RAGlF9l7BJOTpOClUJ39KWJsoXK6aZTq42M1x60HFxNuE130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:52+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}