@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04
> .
@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:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_head
{
this:
np:hasAssertion
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_assertion
;
np:hasProvenance
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_provenance
;
np:hasPublicationInfo
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_assertion
a
np:Assertion
.
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_provenance
a
np:Provenance
.
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0009917
a
ncit:C7057
.
dgn-gda:DGN33f32a01a4f6944fc7a746889a610309
sio:SIO_000628
miriam-gene:6261
,
lld:C0009917
;
a
sio:SIO_001121
.
}
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_provenance
{
dgn-np:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_assertion
dcterms:description
"[That we only identified a genetic defect in RYR1 in 47% of in vitro contracture test positive individuals suggests that there are other areas in RYR1 where pathogenic mutations may occur and that RYR1 may not be the sole gene associated with malignant hyperthermia.]. 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:18564801
;
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:NP454350.RAoRjT8o27t4TsviEMmdZvhnw82k9c9f099XHNw9XYM04130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:30+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" .
}