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http://rdf.disgenet.org/nanopublications.trig#NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_assertion
a
np:Assertion
.
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_provenance
a
np:Provenance
.
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0272285
a
ncit:C7057
.
dgn-gda:DGN70612dd86d80d612d8ec4a36097b074d
sio:SIO_000628
miriam-gene:54840
,
lld:C0272285
;
a
sio:SIO_001121
.
}
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_provenance
{
dgn-np:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_assertion
dcterms:description
"[Structural and mutational data support a wedge-pivot-cut HIT-Znf catalytic mechanism for 5'-adenylate adduct recognition and removal and suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie Aptx dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1).]. 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:21984210
;
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:NP302340.RAF9Ex5IFu6VDGYBbD7HYLalnZo7nf7RJQQAoOonrdx34130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:53+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
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pav:authoredBy
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> , <
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http://orcid.org/0000-0002-9383-528X
> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v2.1.0" .
}