@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k
> .
@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:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_head
{
this:
np:hasAssertion
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_assertion
;
np:hasProvenance
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_provenance
;
np:hasPublicationInfo
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_assertion
a
np:Assertion
.
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_provenance
a
np:Provenance
.
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_assertion
{
miriam-gene:10667
a
ncit:C16612
.
lld:C0007795
a
ncit:C7057
.
dgn-gda:DGN9d2b1a42b55fee4cebff020f561f24c9
sio:SIO_000628
miriam-gene:10667
,
lld:C0007795
;
a
sio:SIO_001121
.
}
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_provenance
{
dgn-np:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_assertion
dcterms:description
"[Clinical features, including postnatal onset, catastrophic epilepsy, lactic acidemia, early lethality and neuroimaging findings of the patients with FARS2 variants, resembled each other closely, and neuropathology was consistent with Alpers syndrome.]. 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:22833457
;
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:NP733404.RA01mWRMdCe-RZftRLIA3Z46XBJrj2JRm5oUYd2a7JT_k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:25+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" .
}