@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4
> .
@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:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_head
{
this:
np:hasAssertion
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_assertion
;
np:hasProvenance
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_assertion
a
np:Assertion
.
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_provenance
a
np:Provenance
.
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_assertion
{
miriam-gene:347733
a
ncit:C16612
.
lld:C0266464
a
ncit:C7057
.
dgn-gda:DGN49b0ab2501b8f8ccd8945fdb2513c662
sio:SIO_000628
miriam-gene:347733
,
lld:C0266464
;
a
sio:SIO_001121
.
}
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_provenance
{
dgn-np:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_assertion
dcterms:description
"[This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function.]. 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:23495813
;
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:NP1060640.RAV3XrN5TMFdwInzK3eLeat-5_Kw_3caJBvhKITQwVZj4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:47+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" .
}