@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_head
{
this:
np:hasAssertion
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_assertion
;
np:hasProvenance
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_provenance
;
np:hasPublicationInfo
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_assertion
a
np:Assertion
.
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_provenance
a
np:Provenance
.
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_assertion
{
miriam-gene:51067
a
ncit:C16612
.
lld:C1838103
a
ncit:C7057
.
dgn-gda:DGN36aa804775c44fd7d793dfccac45a02b
sio:SIO_000628
miriam-gene:51067
,
lld:C1838103
;
a
sio:SIO_001121
.
}
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_provenance
{
dgn-np:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_assertion
dcterms:description
"[In this study we have identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, and we suggest that the background mtDNA haplotype may be contributing to the phenotypic variability.]. 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:24344687
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP900939.RATcS1O31gXva_JIDF-YjLzDLOt_7kgPT8aVkJu7g_rCc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:49+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}