@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8
> .
@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:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_head
{
this:
np:hasAssertion
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_assertion
;
np:hasProvenance
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_provenance
;
np:hasPublicationInfo
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_assertion
a
np:Assertion
.
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_provenance
a
np:Provenance
.
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_assertion
{
miriam-gene:343641
a
ncit:C16612
.
lld:C1285355
a
ncit:C7057
.
dgn-gda:DGNa3b6e940c451be56ec36e57a63847fa5
sio:SIO_000628
miriam-gene:343641
,
lld:C1285355
;
a
sio:SIO_001121
.
}
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_provenance
{
dgn-np:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_assertion
dcterms:description
"[The finding of TGM6 as a novel causative gene of spinocerebellar ataxia illustrates whole-exome sequencing of affected individuals from one family as an effective and cost efficient method for mapping genes of rare Mendelian disorders and the use of linkage analysis and exome sequencing for further improving efficiency.]. 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:21106500
;
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:NP624085.RAtIEoYYc7TtK0MkpgTagWtsjgIZHbonCLQ6A_lZpZMj8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:17+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" .
}