@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628
> .
@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:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_head
{
this:
np:hasAssertion
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_assertion
;
np:hasProvenance
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_provenance
;
np:hasPublicationInfo
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_assertion
a
np:Assertion
.
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_provenance
a
np:Provenance
.
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_assertion
{
miriam-gene:6792
a
ncit:C16612
.
lld:C1096063
a
ncit:C7057
.
dgn-gda:DGN7b3ab7996ffe2575d339f467ef666e47
sio:SIO_000628
miriam-gene:6792
,
lld:C1096063
;
a
sio:SIO_001122
.
}
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_provenance
{
dgn-np:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_assertion
dcterms:description
"[Patients bearing missense mutations in the ATP binding site such as the p.Ala40Val mutation typically walked unaided, had normocephaly, better hand use ability, and less frequent refractory epilepsy when compared to girls with other CDKL5 mutations.]. 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:22678952
;
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:NP719385.RAhuH-7ZlF8oJJ8GgPVrpvKmc2bASA0e0XdsIeF_mV628130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:54+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" .
}