@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM
> .
@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:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_head
{
this:
np:hasAssertion
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_assertion
;
np:hasProvenance
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_provenance
;
np:hasPublicationInfo
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_assertion
a
np:Assertion
.
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_provenance
a
np:Provenance
.
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_assertion
{
miriam-gene:57526
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN24128ff99fb8e5635314024e13c7a36d
sio:SIO_000628
miriam-gene:57526
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_provenance
{
dgn-np:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_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-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:NP763035.RASLpmmSekYOfH29lXhxXX3Vi6OxJjvtnX6UTE4isGUlM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:31+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" .
}