@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo
> .
@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:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_head
{
this:
np:hasAssertion
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_assertion
;
np:hasProvenance
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_provenance
;
np:hasPublicationInfo
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_assertion
a
np:Assertion
.
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_provenance
a
np:Provenance
.
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_assertion
{
miriam-gene:6521
a
ncit:C16612
.
lld:C1704380
a
ncit:C7057
.
dgn-gda:DGNf14117c37da17fd8c3d3b2d65a8e3cc4
sio:SIO_000628
miriam-gene:6521
,
lld:C1704380
;
a
sio:SIO_001121
.
}
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_provenance
{
dgn-np:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_assertion
dcterms:description
"[As several mutant AE1 proteins still maintain a significant anion transport function but are defective in targeting to the cell surface, impaired intracellular trafficking of the mutant AE1 is an important molecular mechanism involved in the pathogenesis of dRTA associated with AE1 mutations.]. 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:15115146
;
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:NP441871.RAYxI64JcPo5dhfYvIpgz6NIafu3PYfjINNDQPIncrlHo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:05+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" .
}