@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ
> .
@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:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_head
{
this:
np:hasAssertion
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_assertion
;
np:hasProvenance
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_assertion
a
np:Assertion
.
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_provenance
a
np:Provenance
.
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_assertion
{
miriam-gene:56652
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGNd22355c9baef89a418df7dcb8b0f8145
sio:SIO_000628
miriam-gene:56652
,
lld:C0338508
;
a
sio:SIO_001121
.
}
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_provenance
{
dgn-np:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_assertion
dcterms:description
"[The five OPA1 mutations associated with these DOA 'plus' phenotypes were all mis-sense point mutations affecting highly conserved amino acid positions and the nuclear genes previously known to induce mtDNA multiple deletions such as POLG1, PEO1 (Twinkle) and SLC25A4 (ANT1) were ruled out.]. 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:18158317
;
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:NP626961.RAbvT3_fySuBXEJ3A6HqZ4O6UlKxMD7xZio5gXfWXB5nQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+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" .
}