@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs
> .
@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:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_head
{
this:
np:hasAssertion
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_assertion
;
np:hasProvenance
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_provenance
;
np:hasPublicationInfo
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_assertion
a
np:Assertion
.
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_provenance
a
np:Provenance
.
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_assertion
{
miriam-gene:51010
a
ncit:C16612
.
lld:C0740279
a
ncit:C7057
.
dgn-gda:DGN28ecf2ee5cb4ec1df1d8afa1bd150d7c
sio:SIO_000628
miriam-gene:51010
,
lld:C0740279
;
a
sio:SIO_001121
.
}
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_provenance
{
dgn-np:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_assertion
dcterms:description
"[By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596).]. 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:22544365
;
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:NP568230.RAvpKB0YObrkAVwK9j62Ytkj7oU_jdd-tEMrL31rRKRGs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:42+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" .
}