@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_assertion
;
np:hasProvenance
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_provenance
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np:hasPublicationInfo
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_assertion
a
np:Assertion
.
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_provenance
a
np:Provenance
.
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_assertion
{
miriam-gene:170302
a
ncit:C16612
.
lld:C0266463
a
ncit:C7057
.
dgn-gda:DGN7293bd1648f1038a18a6e7ce272dfeb7
sio:SIO_000628
miriam-gene:170302
,
lld:C0266463
;
a
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.
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dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_provenance
{
dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_assertion
dcterms:description
"[In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities.]. 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:20036914
;
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 .
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dgn-np:NP789043.RAzojTC6sPoy2wqt1JxpahBshgOHTMD4gcTFEQ1dTiG0c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:01+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
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