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http://rdf.disgenet.org/nanopublications.trig#NP591956.RAE8jBe9usLz9sYdjlFmQyKrs1EZLqXFk1Q1RgUtKel8Q
> .
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> .
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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#
> .
@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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
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;
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{
miriam-gene:2566
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
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dgn-np:NP591956.RAE8jBe9usLz9sYdjlFmQyKrs1EZLqXFk1Q1RgUtKel8Q130_provenance
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dgn-np:NP591956.RAE8jBe9usLz9sYdjlFmQyKrs1EZLqXFk1Q1RgUtKel8Q130_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 ;
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sio:SIO_000772
miriam-pubmed:19783390
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eco:ECO_0000203
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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 .
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
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prv:usedData
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pav:version
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