@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs
> .
@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:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_head
{
this:
np:hasAssertion
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_assertion
;
np:hasProvenance
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_provenance
;
np:hasPublicationInfo
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_assertion
a
np:Assertion
.
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_provenance
a
np:Provenance
.
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_assertion
{
miriam-gene:10381
a
ncit:C16612
.
lld:C1261175
a
ncit:C7057
.
dgn-gda:DGN4ed9e467a0cd6c34e7d7b026e2267998
sio:SIO_000628
miriam-gene:10381
,
lld:C1261175
;
a
sio:SIO_001121
.
}
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_provenance
{
dgn-np:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_assertion
dcterms:description
"[In our study, we report the discovery of six novel missense mutations in the TUBB3 gene, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.]. 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:20829227
;
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:NP553607.RAt4xk5d_d7d6zpxuZ0dVtw09e6ugajaXk3bofx8qhWEs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:33+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" .
}