@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0
> .
@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:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_head
{
this:
np:hasAssertion
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_assertion
;
np:hasProvenance
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_provenance
;
np:hasPublicationInfo
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_assertion
a
np:Assertion
.
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_provenance
a
np:Provenance
.
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_assertion
{
miriam-gene:57526
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGNde61572cdc88a3984121c52a02c9a169
sio:SIO_000628
miriam-gene:57526
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_provenance
{
dgn-np:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_assertion
dcterms:description
"[This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR.]. 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:19752159
;
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:NP931112.RAnRPp2DHXejpWYB_ey7ruOctuAtAGhoxKXpYkLTPg2U0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:08+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" .
}