@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_head
{
this:
np:hasAssertion
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_assertion
;
np:hasProvenance
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_provenance
;
np:hasPublicationInfo
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_assertion
a
np:Assertion
.
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_provenance
a
np:Provenance
.
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_assertion
{
miriam-gene:23230
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGNedcd364506dc22eef5a183c499a95021
sio:SIO_000628
miriam-gene:23230
,
lld:C0393593
;
a
sio:SIO_001121
.
}
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_provenance
{
dgn-np:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_assertion
dcterms:description
"[From a clinical point of view, the common occurrence of cardiomyopathy in MLS, the transfusion hazards due to the McLeod Kell phenotype and the possibility of improving the violent trunk spasms and orofacial dyskinesias typical for ChAc (with subsequent lip or tongue mutilations and feeding dystonia) by deep brain surgery or stimulation should be considered in patient management.]. 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:15760637
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP823867.RA5dLpdTbEqeUP7LsjroLHW4CzirAy29KE3DrjRhtzz6A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:24+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}