@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo
> .
@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:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_head
{
this:
np:hasAssertion
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_assertion
;
np:hasProvenance
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_provenance
;
np:hasPublicationInfo
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_assertion
a
np:Assertion
.
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_provenance
a
np:Provenance
.
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_assertion
{
miriam-gene:10993
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGNc0f8da0d9479464db1034c46749e739d
sio:SIO_000628
miriam-gene:10993
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_provenance
{
dgn-np:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_assertion
dcterms:description
"[A child was normally conceived and born by caesarian section to a healthy 19 year old smoking mother (G2P1) at 38 weeks gestation, with SGA (birthweight SDS -2.44), placenta weight 250g (normal histology), with an umbilical hernia and transient neonatal hypoglycemia but no other features of BWS.The methylation status at 11p15 region was initially investigated by multiplex ligation dependent probe amplification (MLPA).]. 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:23116464
;
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:NP776099.RAysJKDsiSwSjrxUN0HEhKr-7UHrsCSzVAXFZMfzeG-Bo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:50+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" .
}