@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP889593.RAG3RMsSk5GUktoleN0OVI6HnBPAfgcJ8swSE5ipxkx5E
> .
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http://rdf.disgenet.org/resource/nanopub/NP889593.RAG3RMsSk5GUktoleN0OVI6HnBPAfgcJ8swSE5ipxkx5E#
> .
@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 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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v5.0.0/void/
> .
sub:head
{
this:
np:hasAssertion
sub:assertion
;
np:hasProvenance
sub:provenance
;
np:hasPublicationInfo
sub:publicationInfo
;
a
np:Nanopublication
.
}
sub:assertion
{
dgn-gda:DGN7feea1138d45ce877b52f69e78e747c1
sio:SIO_000628
miriam-gene:5825
,
lld:C1527231
;
a
sio:SIO_001121
.
}
sub:provenance
{
sub:assertion
dcterms:description
"[To elucidate the mechanisms underlying the phenotypic variability of ALD, we studied the expression of ABCD1, three other peroxisomal transporter genes of the same family (ABCD2, ABCD3 and ABCD4) and two VLCFA synthetase genes (VLCS and BG1) involved in VLCFA metabolism, as well as the VLCFA concentrations in the normal white matter (WM) from ALD patients with CCER, AMN-C and AMN phenotypes.]. 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:15800013
;
prov:wasDerivedFrom
dgn-void:BEFREE
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:BEFREE
pav:importedOn
"2017-02-19"^^
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 .
}
sub:publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v5.0.0" .
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