@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I
> .
@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/v3.0.0/void/
> .
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_head
{
this:
np:hasAssertion
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_assertion
a
np:Assertion
.
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_provenance
a
np:Provenance
.
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_assertion
{
miriam-gene:8910
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN6502b17f549c354449ab49b0c0e3637b
sio:SIO_000628
miriam-gene:8910
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_provenance
{
dgn-np:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_assertion
dcterms:description
"[We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.]. 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:15389977
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP810955.RAkQnBLUZzQInChP2D-tMxyeIAbOGPppxlx0tkVNXJ01I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:51+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}