@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g
> .
@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:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_head
{
this:
np:hasAssertion
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion
;
np:hasProvenance
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance
;
np:hasPublicationInfo
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion
a
np:Assertion
.
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance
a
np:Provenance
.
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion
{
miriam-gene:64221
a
ncit:C16612
.
lld:C0036439
a
ncit:C7057
.
dgn-gda:DGN18151aad1ed4ba7695207bfde2465941
sio:SIO_000628
miriam-gene:64221
,
lld:C0036439
;
a
sio:SIO_001122
.
}
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance
{
dgn-np:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion
dcterms:description
"[This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis.]. 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:18829051
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:15+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" .
}