@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA
> .
@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:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_head
{
this:
np:hasAssertion
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_assertion
;
np:hasProvenance
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_provenance
;
np:hasPublicationInfo
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_assertion
a
np:Assertion
.
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_provenance
a
np:Provenance
.
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_assertion
{
miriam-gene:538
a
ncit:C16612
.
lld:C0268353
a
ncit:C7057
.
dgn-gda:DGN15e203fb290acd862f2cdff718c6006a
sio:SIO_000628
miriam-gene:538
,
lld:C0268353
;
a
sio:SIO_001121
.
}
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_provenance
{
dgn-np:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_assertion
dcterms:description
"[These findings indicate that the presence of barely detectable amounts of correctly spliced ATP7A transcript is sufficient to permit the development of the milder OHS phenotype, as opposed to classic MD.]. 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:10739752
;
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:NP364699.RAdqlEV1Neb2ljKQhiq253rBRsvDd3bNXXF00vlTUOiOA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:33+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
<
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}