@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig
> .
@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:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_head
{
this:
np:hasAssertion
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion
a
np:Assertion
.
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_provenance
a
np:Provenance
.
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0024591
a
ncit:C7057
.
dgn-gda:DGN5138d71782dd71b55e87a6007c8a12c3
sio:SIO_000628
miriam-gene:6261
,
lld:C0024591
;
a
sio:SIO_001121
.
}
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_provenance
{
dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_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-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:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:52+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
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;
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" .
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