@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY
> .
@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/v3.0.0/void/
> .
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_head
{
this:
np:hasAssertion
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion
;
np:hasProvenance
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance
;
np:hasPublicationInfo
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion
a
np:Assertion
.
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance
a
np:Provenance
.
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion
{
miriam-gene:3388
a
ncit:C16612
.
lld:C0175693
a
ncit:C7057
.
dgn-gda:DGN47e1546b2cd1697ed8b36b7207fa44a6
sio:SIO_000628
miriam-gene:3388
,
lld:C0175693
;
a
sio:SIO_001121
.
}
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance
{
dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion
dcterms:description
"[This report supports the hypothesis that the trans-duplication of the maternal copy of ICR1 alone is sufficient for the clinical manifestation of SRS and demonstrates the usefulness of combining aCGH with karyotyping and FISH for detecting cryptic genomic imbalances.]. 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:23225375
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:19+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}