@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU
> .
@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:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_head
{
this:
np:hasAssertion
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_assertion
;
np:hasProvenance
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_provenance
;
np:hasPublicationInfo
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_assertion
a
np:Assertion
.
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_provenance
a
np:Provenance
.
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_assertion
{
miriam-gene:7086
a
ncit:C16612
.
lld:C0342287
a
ncit:C7057
.
dgn-gda:DGN1258a37589741dac0e1732d267ac7624
sio:SIO_000628
miriam-gene:7086
,
lld:C0342287
;
a
sio:SIO_001121
.
}
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_provenance
{
dgn-np:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_assertion
dcterms:description
"[We conclude that reduced nucleic acid production through impaired transketolase catalysis is the underlying biochemical disturbance that likely induces cell cycle arrest or apoptosis in bone marrow cells and leads to the TRMA syndrome in patients with defective high-affinity thiamine transport.]. 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:12893755
;
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:NP758978.RABbu1rug20k_0ed2sIvLWZpsS569wQCEv8sxHmgWzOIU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:39+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" .
}