@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8
> .
@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:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_head
{
this:
np:hasAssertion
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion
;
np:hasProvenance
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance
;
np:hasPublicationInfo
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion
a
np:Assertion
.
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance
a
np:Provenance
.
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C0037769
a
ncit:C7057
.
dgn-gda:DGNc98a757b08b965adf7879cbd1ce9823d
sio:SIO_000628
miriam-gene:5048
,
lld:C0037769
;
a
sio:SIO_001121
.
}
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_provenance
{
dgn-np:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_assertion
dcterms:description
"[Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor 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:16806828
;
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:NP606033.RAwxmlPDAsA7XkXasGBofLarx0e2Yj1akrmM8d8mbetV8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:42+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" .
}