@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE
> .
@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:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_head
{
this:
np:hasAssertion
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_assertion
;
np:hasProvenance
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_assertion
a
np:Assertion
.
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_provenance
a
np:Provenance
.
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_assertion
{
miriam-gene:23314
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGN915a8ad34edb14090c8d3205771ec9f1
sio:SIO_000628
miriam-gene:23314
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_provenance
{
dgn-np:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_assertion
dcterms:description
"[We provide supporting evidence that analysis for deletions or point mutations in SATB2 should be considered in children with intellectual disability and severely impaired speech, cleft or high palate, teeth abnormalities, and osteopenia.]. 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:25885067
;
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:NP1278789.RAAJMdrWbwT58nf5htEutsokou08Ah9EeQ1YkH2W3HzfE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:25+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" .
}