@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA
> .
@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:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_head
{
this:
np:hasAssertion
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_assertion
;
np:hasProvenance
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_assertion
a
np:Assertion
.
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_provenance
a
np:Provenance
.
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_assertion
{
miriam-gene:347733
a
ncit:C16612
.
lld:C0028850
a
ncit:C7057
.
dgn-gda:DGN7b9b3ab1fac964d8a6082512da509e7d
sio:SIO_000628
miriam-gene:347733
,
lld:C0028850
;
a
sio:SIO_001121
.
}
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_provenance
{
dgn-np:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_assertion
dcterms:description
"[The vital role that the microtubule cytoskeleton plays in these cellular processes is reflected by the discovery that mutations in various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (TUBA1A), polymicrogyria (TUBA1A, TUBB2B, TUBB3), and an ocular motility disorder (TUBB3).]. 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:23246003
;
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:NP1036685.RAy3zxv0xT-Hqh1PoLq35FdOzTALYgqgRWvCS00IOZ4cA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:35+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" .
}