@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U
> .
@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#
> .
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_head
{
this:
np:hasAssertion
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_assertion
;
np:hasProvenance
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_provenance
;
np:hasPublicationInfo
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_assertion
a
np:Assertion
.
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_provenance
a
np:Provenance
.
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C1848201
a
ncit:C7057
.
dgn-gda:DGNcbbd1989d50ecfd622fd01ec2165b388
sio:SIO_000628
miriam-gene:5048
,
lld:C1848201
;
a
sio:SIO_001121
.
}
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_provenance
{
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_assertion
dcterms:description
"[Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing.]. 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:19380077
;
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 .
}
dgn-np:NP883096.RAtVQiVqcoOLZbKXwfINaft4Z9I11nilV-8gzHU9fMI5U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:59+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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}