@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs
> .
@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 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:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_head
{
this:
np:hasAssertion
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_assertion
;
np:hasProvenance
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_provenance
;
np:hasPublicationInfo
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_assertion
a
np:Assertion
.
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_provenance
a
np:Provenance
.
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_assertion
{
miriam-gene:4547
a
ncit:C16612
.
lld:C0015230
a
ncit:C7057
.
dgn-gda:DGNcc7b1f4823f6cbd9407b2330ee0327f7
sio:SIO_000628
miriam-gene:4547
,
lld:C0015230
;
a
sio:SIO_001121
.
}
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_provenance
{
dgn-np:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_assertion
dct:description
"[The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).]. 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:16297647
;
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:NP196668.RADEstIlMXAuHRp_wzCRWe5kKa-IfvtWFdsr8mhPxR7rs130_publicationInfo
{
this:
dct:created
"2014-10-02T12:33:48+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}