@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos
> .
@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:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_head
{
this:
np:hasAssertion
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion
;
np:hasProvenance
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance
;
np:hasPublicationInfo
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion
a
np:Assertion
.
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance
a
np:Provenance
.
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion
{
miriam-gene:23405
a
ncit:C16612
.
lld:C2986703
a
ncit:C7057
.
dgn-gda:DGN45bb835256fec8720b94533e10f14f8b
sio:SIO_000628
miriam-gene:23405
,
lld:C2986703
;
a
sio:SIO_001121
.
}
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance
{
dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion
dcterms:description
"[We propose that mutations affecting the metal binding sites of the DICER1 RNase IIIb domain alter the balance of 3p and 5p microRNAs leading to deregulation of these growth signalling pathways, causing a novel human overgrowth 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:24676357
;
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:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:35+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" .
}