@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc
> .
@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/
> .
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_head
{
this:
np:hasAssertion
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_assertion
;
np:hasProvenance
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_provenance
;
np:hasPublicationInfo
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_assertion
a
np:Assertion
.
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_provenance
a
np:Provenance
.
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_assertion
{
miriam-gene:2235
a
ncit:C16612
.
lld:C0162568
a
ncit:C7057
.
dgn-gda:DGN0520326836a5e7fc34272c77e38b0b76
sio:SIO_000628
miriam-gene:2235
,
lld:C0162568
;
a
sio:SIO_001121
.
}
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_provenance
{
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_assertion
dcterms:description
"[Thus, we provide evidence that the instability of the heterodimer containing normal and mutated ferrochelatase as well as the low production levels due to the structural defect of the mutant protein, not the abolishment of the enzymic activity of the heterodimer, causes the weak activity in EPP 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:15574461
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
}
dgn-np:NP470861.RACBgsdfevkmODRM_Xsq9SqqcRi_jBCzoS7MNw58loIBc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:18+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}