@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4
> .
@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:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_head
{
this:
np:hasAssertion
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_assertion
;
np:hasProvenance
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_provenance
;
np:hasPublicationInfo
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_assertion
a
np:Assertion
.
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_provenance
a
np:Provenance
.
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN63d589a3e8fff4f2ba79d222c911c2d9
sio:SIO_000628
miriam-gene:6792
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_provenance
{
dgn-np:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_assertion
dcterms:description
"[Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.]. 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:17993579
;
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:NP382645.RA3vgELVlJMaCWbRg_5sU5OYl3IP3V5pe0xMvG4_IzNK4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:46+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" .
}