@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U
> .
@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/v4.0.0/void/
> .
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_head
{
this:
np:hasAssertion
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_assertion
;
np:hasProvenance
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_provenance
;
np:hasPublicationInfo
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_assertion
a
np:Assertion
.
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_provenance
a
np:Provenance
.
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_assertion
{
miriam-gene:11128
a
ncit:C16612
.
lld:C0023520
a
ncit:C7057
.
dgn-gda:DGN3abda3fa21e345cfc75037879f67d9fc
sio:SIO_000628
miriam-gene:11128
,
lld:C0023520
;
a
sio:SIO_001121
.
}
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_provenance
{
dgn-np:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_assertion
dcterms:description
"[Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes.]. 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:22036172
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP934459.RAuzgloC6Gld4trSPjJiTE1J0d31r8sLZNlts5QflFI0U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:48+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}