@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc
> .
@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:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_head
{
this:
np:hasAssertion
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_assertion
;
np:hasProvenance
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_provenance
;
np:hasPublicationInfo
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_assertion
a
np:Assertion
.
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_provenance
a
np:Provenance
.
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_assertion
{
miriam-gene:2235
a
ncit:C16612
.
lld:C0948740
a
ncit:C7057
.
dgn-gda:DGN79595ed2c866a13086450325455a04ba
sio:SIO_000628
miriam-gene:2235
,
lld:C0948740
;
a
sio:SIO_001121
.
}
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_provenance
{
dgn-np:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_assertion
dcterms:description
"[We report a submicroscopic duplication of Xq27.1, the smallest reported to date (685.6 kb), in two siblings with variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum.]. 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:15800844
;
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:NP556212.RApJ3pcij--aH4138iJtSHqoKKhbXBVyjKKtJSCrBIiwc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:35+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: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" .
}