@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8
> .
@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:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_head
{
this:
np:hasAssertion
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_assertion
;
np:hasProvenance
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_provenance
;
np:hasPublicationInfo
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_assertion
a
np:Assertion
.
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_provenance
a
np:Provenance
.
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_assertion
{
miriam-gene:347733
a
ncit:C16612
.
lld:C0266463
a
ncit:C7057
.
dgn-gda:DGN503e2fea3683f5adac06b0b5f740da11
sio:SIO_000628
miriam-gene:347733
,
lld:C0266463
;
a
sio:SIO_001121
.
}
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_provenance
{
dgn-np:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_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-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:NP303537.RARcri1xdKDtZ4uoV3rdAF99gyKwpDPJMQnuOeZ3XuQH8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:54+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" .
}