@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM
> .
@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:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_head
{
this:
np:hasAssertion
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_assertion
;
np:hasProvenance
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_provenance
;
np:hasPublicationInfo
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_assertion
a
np:Assertion
.
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_provenance
a
np:Provenance
.
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_assertion
{
miriam-gene:1374
a
ncit:C16612
.
lld:C0238463
a
ncit:C7057
.
dgn-gda:DGN7f3a71eb8e707d59384c06e9acd9dc88
sio:SIO_000628
miriam-gene:1374
,
lld:C0238463
;
a
sio:SIO_001121
.
}
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_provenance
{
dgn-np:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_assertion
dcterms:description
"[Our study demonstrated that after both PTC 124 and gentamicin treatment, there was an increase in CPT1 activity in patient fibroblasts to levels that are similar to that of the mild Inuit P479L variant.]. 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:21253826
;
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:NP636408.RA87qP6yz7Q6vLd2M71sKqlXVZI1yLa0AriRlRX_wl5WM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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" .
}