@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8
> .
@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:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_head
{
this:
np:hasAssertion
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_assertion
;
np:hasProvenance
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_provenance
;
np:hasPublicationInfo
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_assertion
a
np:Assertion
.
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_provenance
a
np:Provenance
.
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_assertion
{
miriam-gene:4061
a
ncit:C16612
.
lld:C0752121
a
ncit:C7057
.
dgn-gda:DGNd48152f960680e78e76b7d58058aa6d0
sio:SIO_000628
miriam-gene:4061
,
lld:C0752121
;
a
sio:SIO_001121
.
}
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_provenance
{
dgn-np:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_assertion
dcterms:description
"[This family expands the phenotypic spectrum of early onset SCA2 and points out the importance of considering SCA2 gene analysis in children with progressive neurological impairment and abnormal movements with or without polyphagia.]. 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:18297329
;
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:NP363205.RAah-UFDUmQhLQVQ99QJfUV9U5P8MNMbjmx6_rr4o2Ns8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:32+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" .
}