@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk
> .
@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:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_head
{
this:
np:hasAssertion
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_assertion
a
np:Assertion
.
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_provenance
a
np:Provenance
.
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_assertion
{
miriam-gene:478
a
ncit:C16612
.
lld:C0235031
a
ncit:C7057
.
dgn-gda:DGNdfb43541522ad3c9274bdce8c2cc2566
sio:SIO_000628
miriam-gene:478
,
lld:C0235031
;
a
sio:SIO_001121
.
}
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_provenance
{
dgn-np:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_assertion
dcterms:description
"[ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes.]. 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:25447930
;
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:NP1242292.RAsHyAOBVE8qAI5qxtmMOyuYPwhHHeprR9d_egYkzdGnk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:09+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" .
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pav:version
"v4.0.0" .
}