@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc
> .
@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/v3.0.0/void/
> .
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_head
{
this:
np:hasAssertion
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_assertion
;
np:hasProvenance
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_provenance
;
np:hasPublicationInfo
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_assertion
a
np:Assertion
.
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_provenance
a
np:Provenance
.
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_assertion
{
miriam-gene:5308
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGNeb757106e3d6c2a0b22e6d11383ecae0
sio:SIO_000628
miriam-gene:5308
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_provenance
{
dgn-np:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_assertion
dcterms:description
"[Point mutations responsible for the development of these genetic disorders were also examined; the results suggest that these mutations lead to the inability of Pitx2 to adopt its proper structure and bind to the regulatory sequences of its target gene(s), which in turn affects its metabolic role in the cell.]. 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:10502778
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP626350.RAphGbx-sFocSM6BmrWymbmm0bKBLpbLf79bCFaCLSWsc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:54+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}