@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI
> .
@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:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_head
{
this:
np:hasAssertion
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_assertion
;
np:hasProvenance
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_assertion
a
np:Assertion
.
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_provenance
a
np:Provenance
.
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_assertion
{
miriam-gene:6223
a
ncit:C16612
.
lld:C0235833
a
ncit:C7057
.
dgn-gda:DGNcec01e90f079c0adbe831d3a518159ce
sio:SIO_000628
miriam-gene:6223
,
lld:C0235833
;
a
sio:SIO_001121
.
}
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_provenance
{
dgn-np:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_assertion
dcterms:description
"[A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond-Blackfan anemia.]. 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:24352913
;
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:NP1138179.RAGir0TLHlhQmV9LuNJ-ypEZhXcR-iLvjSXKjnnkGo0DI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:22+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" .
}