@prefix this: <
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> .
@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/
> .
@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-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_assertion
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np:hasProvenance
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dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_assertion
a
np:Assertion
.
dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_provenance
a
np:Provenance
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dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_publicationInfo
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{
miriam-gene:5830
a
ncit:C16612
.
lld:C0043459
a
ncit:C7057
.
dgn-gda:DGNd7eba1caeee415d42e80f30addc7c8d3
sio:SIO_000628
miriam-gene:5830
,
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;
a
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.
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{
dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_assertion
dcterms:description
"[Here, we report that GPI lipid remodeling is defective in cells from patients with Zellweger syndrome having mutations in the peroxisomal biogenesis factors PEX5, PEX16, and PEX19 and in cells from patients with RCDP types 1, 2, and 3 caused by mutations in PEX7, DHAP-AT, and alkyl-DHAP synthase, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:22253471
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
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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 .
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dgn-np:NP954041.RA7kke7JTkOoSWLfeoseAxBS3Y55_XriNNALXsH0ogCF0130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> , <
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> ;
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<
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