@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ
> .
@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:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_head
{
this:
np:hasAssertion
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion
;
np:hasProvenance
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion
a
np:Assertion
.
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance
a
np:Provenance
.
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion
{
miriam-gene:6812
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN911c5dc23a2a57928c5b60a6975e7669
sio:SIO_000628
miriam-gene:6812
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance
{
dgn-np:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion
dcterms:description
"[In conclusion, the case described here suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy.]. 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:25714420
;
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:NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:20+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" .
}