@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s
> .
@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:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_head
{
this:
np:hasAssertion
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_assertion
a
np:Assertion
.
dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_provenance
a
np:Provenance
.
dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_publicationInfo
a
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{
miriam-gene:6323
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGN452d59f8b97f3c5d9ce3353456c4e434
sio:SIO_000628
miriam-gene:6323
,
lld:C0751122
;
a
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.
}
dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_provenance
{
dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_assertion
dcterms: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_literature
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sio:SIO_000772
miriam-pubmed:19783390
;
prov:wasDerivedFrom
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;
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 .
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dgn-np:NP765555.RAtuGy-csxhNLjnHx8OPNZpU6ifAYc5pK8XYodvkVd39s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:32+02:00"^^
xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
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> , <
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> , <
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http://orcid.org/0000-0003-1244-7654
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<
http://orcid.org/0000-0003-0169-8159
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