@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk
> .
@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:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_head
{
this:
np:hasAssertion
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion
;
np:hasProvenance
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance
;
np:hasPublicationInfo
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion
a
np:Assertion
.
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance
a
np:Provenance
.
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion
{
miriam-gene:170302
a
ncit:C16612
.
lld:C0020225
a
ncit:C7057
.
dgn-gda:DGN796461662d439f0e835f77481af3e548
sio:SIO_000628
miriam-gene:170302
,
lld:C0020225
;
a
sio:SIO_001121
.
}
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance
{
dgn-np:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion
dcterms:description
"[Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly.]. 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:20384723
;
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:NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:50+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" .
}