@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA
> .
@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:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_head
{
this:
np:hasAssertion
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_assertion
;
np:hasProvenance
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_provenance
;
np:hasPublicationInfo
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_assertion
a
np:Assertion
.
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_provenance
a
np:Provenance
.
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGNf2d0f918a6ad851d93ac4e2424e574fa
sio:SIO_000628
miriam-gene:6261
,
lld:C0751951
;
a
sio:SIO_001121
.
}
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_provenance
{
dgn-np:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_assertion
dcterms:description
"[CCD and MHS are allelic conditions both due to (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1).]. 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:17504518
;
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:NP610044.RAjK0DTMrQCcQ76mGZfZdPPvSnlmq7Qyebxxq2SIl99TA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:22+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" .
}