@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg
> .
@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:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_head
{
this:
np:hasAssertion
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_assertion
;
np:hasProvenance
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_provenance
;
np:hasPublicationInfo
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_assertion
a
np:Assertion
.
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_provenance
a
np:Provenance
.
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_assertion
{
miriam-gene:6328
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN04f3f16ddcbf5d1baf4bd2bcbdefc42d
sio:SIO_000628
miriam-gene:6328
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_provenance
{
dgn-np:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_assertion
dcterms:description
"[We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.]. 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:24080482
;
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:NP613304.RAvHqZc5TAHXbCK6wj6zbdVv9GljhBxVA54vgGLGZFslg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:11+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" .
}