@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek
> .
@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:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_head
{
this:
np:hasAssertion
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_assertion
;
np:hasProvenance
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_provenance
;
np:hasPublicationInfo
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_assertion
a
np:Assertion
.
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_provenance
a
np:Provenance
.
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0271390
a
ncit:C7057
.
dgn-gda:DGN4e8bea4ddca84ce436991c0bca54a3c5
sio:SIO_000628
miriam-gene:57216
,
lld:C0271390
;
a
sio:SIO_001121
.
}
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_provenance
{
dgn-np:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_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:NP420993.RA10ulGhSQJ53_Ed6jRg2xLZ75NOsRgt1uk_g9_lZ47ek130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:10+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" .
}