@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74
> .
@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/
> .
@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:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_head
{
this:
np:hasAssertion
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_assertion
;
np:hasProvenance
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_provenance
;
np:hasPublicationInfo
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_assertion
a
np:Assertion
.
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_provenance
a
np:Provenance
.
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0016719
a
ncit:C7057
.
dgn-gda:DGN2e76dda967cc312b86e6340575f7daa9
sio:SIO_000628
miriam-gene:2548
,
lld:C0016719
;
a
sio:SIO_001121
.
}
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_provenance
{
dgn-np:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_assertion
dcterms:description
"[Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.]. 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:10556290
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP267370.RAAwEuvNawgCIoH-fBwekx6M_iTADmwbROsaA5mjgSM74130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:47+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" .
}