@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68
> .
@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:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_head
{
this:
np:hasAssertion
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion
;
np:hasProvenance
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance
;
np:hasPublicationInfo
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion
a
np:Assertion
.
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance
a
np:Provenance
.
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion
{
miriam-gene:1716
a
ncit:C16612
.
lld:C0085605
a
ncit:C7057
.
dgn-gda:DGNe2c17f419287e06b107e093df14514e0
sio:SIO_000628
miriam-gene:1716
,
lld:C0085605
;
a
sio:SIO_001121
.
}
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance
{
dgn-np:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion
dcterms:description
"[The phenotype was distinctive for each gene, with hepatic failure and encephalopathy associated with mutations in the deoxyguanosine kinase gene and isolated devastating myopathy as the sole manifestation of thymidine kinase 2 deficiency.]. 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:12110944
;
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:NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:28+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" .
}