@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog
> .
@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:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_head
{
this:
np:hasAssertion
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_assertion
;
np:hasProvenance
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_provenance
;
np:hasPublicationInfo
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_assertion
a
np:Assertion
.
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_provenance
a
np:Provenance
.
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_assertion
{
miriam-gene:51162
a
ncit:C16612
.
lld:C0751354
a
ncit:C7057
.
dgn-gda:DGN5d336928ce08210122962003c3347e11
sio:SIO_000628
miriam-gene:51162
,
lld:C0751354
;
a
sio:SIO_001121
.
}
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_provenance
{
dgn-np:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_assertion
dcterms:description
"[Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.]. 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:24808020
;
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:NP902613.RAfTXK00w7Nwj4CDM12p7EqFNHdqGGvnXulCoXGiCtHog130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:51+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" .
}