@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w
> .
@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:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_head
{
this:
np:hasAssertion
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_assertion
;
np:hasProvenance
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_provenance
;
np:hasPublicationInfo
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_assertion
a
np:Assertion
.
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_provenance
a
np:Provenance
.
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_assertion
{
miriam-gene:6262
a
ncit:C16612
.
lld:C0024591
a
ncit:C7057
.
dgn-gda:DGN3e8b6c9395143d9b22fe3b4db126a6e1
sio:SIO_000628
miriam-gene:6262
,
lld:C0024591
;
a
sio:SIO_001121
.
}
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_provenance
{
dgn-np:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_assertion
dcterms:description
"[It provides a time line over the past half century of the highlights of research on malignant hyperthermia (MH), central core disease (CCD) and catecholaminergic polymorphic ventricular tachycardia (CPVT), that resulted in the identification of the ryanodine receptor (RYR), calsequestrin (CASQ) and dihydropyridine receptor (CACNA1S) genes as sites of disease-causing mutations.]. 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:21118704
;
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:NP166812.RAzMXmXtfqKE43DychlVl_uC0syKLoSDwmm17iXJn_h6w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:30+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" .
}