@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU
> .
@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:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_head
{
this:
np:hasAssertion
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_assertion
;
np:hasProvenance
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_provenance
;
np:hasPublicationInfo
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_assertion
a
np:Assertion
.
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_provenance
a
np:Provenance
.
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C3502809
a
ncit:C7057
.
dgn-gda:DGN6731c61345c0dafb534cf8228f20a158
sio:SIO_000628
miriam-gene:6323
,
lld:C3502809
;
a
sio:SIO_001121
.
}
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_provenance
{
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_assertion
dcterms:description
"[Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus.]. 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:15087100
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
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 .
}
dgn-np:NP440149.RANLPGiUoZTbkB0shyGIWduRFl8pGkg88Gl8PzfgfMxKU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:04+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" .
}