@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0
> .
@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:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_head
{
this:
np:hasAssertion
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_assertion
;
np:hasProvenance
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_provenance
;
np:hasPublicationInfo
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_assertion
a
np:Assertion
.
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_provenance
a
np:Provenance
.
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN8f10f141d84aaa2e4e027faefd181815
sio:SIO_000628
miriam-gene:57216
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_provenance
{
dgn-np:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_assertion
dcterms:description
"[We observed a two generation family with ataxia which started at age 14 and 17 in two sibs and at age 23 in their paternal uncle.Oculomotor disturbances included strabismus, saccadic pursuit and gaze evoked nystagmus.]. 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:18350359
;
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:NP813987.RABYrlULoR89df9kl5GeBdHCn9tq0Sm9jtKpAWnvjPbC0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:19+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" .
}