@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8
> .
@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:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_head
{
this:
np:hasAssertion
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion
;
np:hasProvenance
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance
;
np:hasPublicationInfo
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion
a
np:Assertion
.
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance
a
np:Provenance
.
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C0266463
a
ncit:C7057
.
dgn-gda:DGN6cf3864f9b84c556aeacc4ae96ba2a9a
sio:SIO_000628
miriam-gene:5048
,
lld:C0266463
;
a
sio:SIO_001121
.
}
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_provenance
{
dgn-np:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_assertion
dcterms:description
"[As sequence analysis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly.]. 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:9760204
;
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:NP178003.RAJLhSJ3BCZ47prdSU3nnMR5g4b0AxjhuLZWUXp64Du_8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:36+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" .
}