@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y
> .
@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 np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_head
{
this:
np:hasAssertion
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion
;
np:hasProvenance
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion
a
np:Assertion
.
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance
a
np:Provenance
.
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGNb76c8b724c47ea05f601710f7320877c
sio:SIO_000628
miriam-gene:6261
,
lld:C0751951
;
a
sio:SIO_001122
.
}
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance
{
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion
dcterms:description
"[Comparison with two other coexpressed mutant/normal channels suggests that the I4898T mutation produces one of the most abnormal RyR1 channels yet investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected central core disease individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10097181
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}