@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU
> .
@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:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_head
{
this:
np:hasAssertion
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion
;
np:hasProvenance
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance
;
np:hasPublicationInfo
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;
a
np:Nanopublication
.
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_assertion
a
np:Assertion
.
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance
a
np:Provenance
.
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:5824
a
ncit:C16612
.
lld:C0043459
a
ncit:C7057
.
dgn-gda:DGNea8d72b41b36351b2e1ca5a658e4efe2
sio:SIO_000628
miriam-gene:5824
,
lld:C0043459
;
a
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.
}
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_provenance
{
dgn-np:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_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 ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:22253471
;
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:NP336464.RAFWYQAQHU4Ik5cdc8i1xWU__9d_Q6y3VNXqrPX0QwRtU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:18+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
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> , <
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" .
}