@prefix bfo: <
http://purl.obolibrary.org/obo/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU
> .
@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 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:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_head
{
this:
np:hasAssertion
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_assertion
;
np:hasProvenance
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_provenance
;
np:hasPublicationInfo
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_assertion
a
np:Assertion
.
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_provenance
a
np:Provenance
.
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_assertion
{
miriam-gene:1384
a
ncit:C16612
.
lld:C0018790
a
ncit:C7057
.
dgn-gda:DGN043d199545a6c3f545ba8abf1ce8671a
sio:SIO_000628
miriam-gene:1384
,
lld:C0018790
;
a
sio:SIO_001122
.
}
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_provenance
{
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_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-2016
;
prov:wasGeneratedBy
bfo:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
bfo:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP259421.RALyN19NP7tQZAznqUQrKy1wBsx4c865CQOSQifS_wxIU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:43+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" .
}