@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc
> .
@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:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_head
{
this:
np:hasAssertion
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion
;
np:hasProvenance
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance
;
np:hasPublicationInfo
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion
a
np:Assertion
.
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance
a
np:Provenance
.
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGNed218b5dc32e12002ea78014e656c86b
sio:SIO_000628
miriam-gene:6261
,
lld:C0751951
;
a
sio:SIO_001122
.
}
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance
{
dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion
dcterms:description
"[The reduction of EC(50) indicates a facilitated calcium release from sarcoplasmic reticulum in the myotubes of the index patient suggesting that the RYR1 Ile2453Thr mutation is pathogenic for the malignant hyperthermia susceptibility and CCD of the two affected individuals.]. 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:12810058
;
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:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:46+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" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}