@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4
> .
@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:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_head
{
this:
np:hasAssertion
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_assertion
;
np:hasProvenance
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_provenance
;
np:hasPublicationInfo
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_assertion
a
np:Assertion
.
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_provenance
a
np:Provenance
.
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_assertion
{
miriam-gene:1641
a
ncit:C16612
.
lld:C0266463
a
ncit:C7057
.
dgn-gda:DGN2dd3dc2acd16b2332092c9aae4521f3e
sio:SIO_000628
miriam-gene:1641
,
lld:C0266463
;
a
sio:SIO_001121
.
}
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_provenance
{
dgn-np:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_assertion
dcterms:description
"[To better define the range of these abnormalities, we searched for additional mutations in a cohort of 100 patients with lissencephaly spectrum for whom no mutation was identified in DCX, LIS1 and ARX genes and compared these data to five previously described patients with TUBA1A mutations.]. 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:18728072
;
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:NP689746.RAaCYPcK8JqHCZM2rcmeGY-bhz2BKpHSez3nWLhk8eVb4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:57+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" .
}