@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q
> .
@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:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_head
{
this:
np:hasAssertion
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_assertion
;
np:hasProvenance
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_assertion
a
np:Assertion
.
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_provenance
a
np:Provenance
.
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_assertion
{
miriam-gene:56652
a
ncit:C16612
.
lld:C0342782
a
ncit:C7057
.
dgn-gda:DGNa41817a475455e84e119a4b012c804d4
sio:SIO_000628
miriam-gene:56652
,
lld:C0342782
;
a
sio:SIO_001121
.
}
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_provenance
{
dgn-np:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_assertion
dcterms:description
"[The feature of renal tubulopathy adds to the multisystemic presentation in our patients and further demonstrates an expansion of the phenotype in mitochondrial DNA depletion syndrome associated with TWINKLE gene mutations.]. 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:23375728
;
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:NP385883.RARsFxtJp_Dn-frgDQjyrRjNCMxQv8vZoJf_lCatONG2Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:50+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: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" .
}