@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI
> .
@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:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_head
{
this:
np:hasAssertion
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_assertion
;
np:hasProvenance
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_assertion
a
np:Assertion
.
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_provenance
a
np:Provenance
.
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_assertion
{
miriam-gene:1356
a
ncit:C16612
.
lld:C0022716
a
ncit:C7057
.
dgn-gda:DGNe6be8b4ad868eb502d0d62766aba4365
sio:SIO_000628
miriam-gene:1356
,
lld:C0022716
;
a
sio:SIO_001121
.
}
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_provenance
{
dgn-np:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_assertion
dcterms:description
"[A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease.]. 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:25361912
;
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:NP1234166.RAFwGtUZdxgErKp5y2gI8McCd93_BxOhBOhDXBDlHcQMI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:05+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" .
}