@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4
> .
@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:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_head
{
this:
np:hasAssertion
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_assertion
a
np:Assertion
.
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_provenance
a
np:Provenance
.
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGN51f63931f830a2b90d8971a8cf825f61
sio:SIO_000628
miriam-gene:6261
,
lld:C0751951
;
a
sio:SIO_001121
.
}
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_provenance
{
dgn-np:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_assertion
dcterms:description
"[More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease.]. 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:16372898
;
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:NP528136.RASi1D-XT4GrDD2ER_Rkuq41mp8-781Utuys2AlfyR9n4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:44+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
<
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> , <
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" .
}