@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ
> .
@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:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_head
{
this:
np:hasAssertion
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_assertion
;
np:hasProvenance
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_assertion
a
np:Assertion
.
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_provenance
a
np:Provenance
.
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_assertion
{
miriam-gene:10667
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN5ac9d0cb8a77b20dba5c784f47c90233
sio:SIO_000628
miriam-gene:10667
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_provenance
{
dgn-np:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_assertion
dcterms:description
"[We utilized whole-exome analysis and discovered novel compound heterozygous mutations in FARS2 (mitochondrial phenylalanyl transfer RNA synthetase), encoding the mitochondrial phenylalanyl transfer RNA (tRNA) synthetase (mtPheRS) in two patients with fatal epileptic mitochondrial encephalopathy.]. 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:NP515332.RABYRBgSSkaaIF7zfnMMtJCeodAPt88p851i7noV8-wWQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:07+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" .
}