@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ
> .
@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:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_head
{
this:
np:hasAssertion
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion
;
np:hasProvenance
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion
a
np:Assertion
.
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance
a
np:Provenance
.
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion
{
miriam-gene:1120
a
ncit:C16612
.
lld:C0699743
a
ncit:C7057
.
dgn-gda:DGN2ca0ff56539e38020d014fb867deac52
sio:SIO_000628
miriam-gene:1120
,
lld:C0699743
;
a
sio:SIO_001121
.
}
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance
{
dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion
dcterms:description
"[Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion.]. 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:24997086
;
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:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:49+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" .
}