@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s
> .
@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:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_head
{
this:
np:hasAssertion
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_assertion
;
np:hasProvenance
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_provenance
;
np:hasPublicationInfo
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_assertion
a
np:Assertion
.
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_provenance
a
np:Provenance
.
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGNc6e952ac9156853e7328a68d7e088706
sio:SIO_000628
miriam-gene:6792
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_provenance
{
dgn-np:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_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-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:NP639670.RArTZqnNg9YW9-XuY7CGm6po79SqBU75mCZg14vfp42_s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:35+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" .
}