@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k
> .
@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:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_head
{
this:
np:hasAssertion
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_assertion
;
np:hasProvenance
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_provenance
;
np:hasPublicationInfo
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_assertion
a
np:Assertion
.
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_provenance
a
np:Provenance
.
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_assertion
{
miriam-gene:23451
a
ncit:C16612
.
lld:C0162674
a
ncit:C7057
.
dgn-gda:DGNea1a2ceaa12a97955624a84999a91c3e
sio:SIO_000628
miriam-gene:23451
,
lld:C0162674
;
a
sio:SIO_001121
.
}
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_provenance
{
dgn-np:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_assertion
dcterms:description
"[Although dominant Twinkle mutations have been previously reported in patients with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions, we report here the first recessive Twinkle mutation in patients with hepatocerebral form of MDS.]. 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:17722119
;
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:NP267544.RA40xFlok5XcipL6ZqsJYm7ab8fJrCHfutdpJ6IDKYm9k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:29+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" .
}