@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_head
{
this:
np:hasAssertion
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_assertion
;
np:hasProvenance
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_provenance
;
np:hasPublicationInfo
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_assertion
a
np:Assertion
.
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_provenance
a
np:Provenance
.
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_assertion
{
miriam-gene:7084
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGNd8631e1f9e11bdd14f864251251b7a26
sio:SIO_000628
miriam-gene:7084
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_provenance
{
dgn-np:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_assertion
dcterms:description
"[Here we identify two mutations in TK2, histidine 90 to asparagine and isoleucine 181 to asparagine, in four individuals who developed devastating myopathy and depletion of muscular mitochondrial DNA in infancy.]. 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:11687801
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP328582.RATb_Czci5EOO5A_-z0Il8mwfgtcRqiYAGbrHas-jE-U4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:13+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}