@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs
> .
@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:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_head
{
this:
np:hasAssertion
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_assertion
;
np:hasProvenance
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_provenance
;
np:hasPublicationInfo
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_assertion
a
np:Assertion
.
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_provenance
a
np:Provenance
.
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_assertion
{
miriam-gene:3895
a
ncit:C16612
.
lld:C0282527
a
ncit:C7057
.
dgn-gda:DGN053f606c77261900158dc54f6b3f37fb
sio:SIO_000628
miriam-gene:3895
,
lld:C0282527
;
a
sio:SIO_001121
.
}
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_provenance
{
dgn-np:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_assertion
dcterms:description
"[In the present work, we found that peroxisomes were morphologically and biochemically formed at 30 but not 37 degrees C, in the fibroblasts from all CG1 IRD patients examined, whereas almost no peroxisomes were seen in ZS and NALD cells, even at 30 degrees C. A point missense mutation, G843D, was identified in the PEX1 allele of most CG1 IRD patients.]. 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:9817926
;
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:NP642425.RAsDvKhjFs1pN1Q8fFh7Jnf5tFXAA_5MAUZnK4sqGbwYs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:27+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" .
}