@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw
> .
@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:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_head
{
this:
np:hasAssertion
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_assertion
;
np:hasProvenance
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_provenance
;
np:hasPublicationInfo
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_assertion
a
np:Assertion
.
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_provenance
a
np:Provenance
.
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_assertion
{
miriam-gene:836
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
dgn-gda:DGN924d3e1c4b8860c39e690ca2eace4ffb
sio:SIO_000628
miriam-gene:836
,
lld:C0087012
;
a
sio:SIO_001121
.
}
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_provenance
{
dgn-np:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_assertion
dcterms:description
"[(ii) The observation of an expanded spinocerebellar ataxia (SCA)1 allele with an unusual pattern of multiple CAT interruptions showed that cryptic sequence variations are critical not only for sequence length stability but also for the expression of the disease phenotype.]. 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:10434311
;
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:NP805750.RARYlexLkP07Jwj5UQlOdZVw6rCy6OGHuqFAxqLc6xWfw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:14+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" .
}