@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM
> .
@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:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_head
{
this:
np:hasAssertion
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_assertion
;
np:hasProvenance
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_provenance
;
np:hasPublicationInfo
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_assertion
a
np:Assertion
.
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_provenance
a
np:Provenance
.
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_assertion
{
miriam-gene:2316
a
ncit:C16612
.
lld:C0001614
a
ncit:C7057
.
dgn-gda:DGN1bbbbfe65d46d1ee041f1bb12bb097fd
sio:SIO_000628
miriam-gene:2316
,
lld:C0001614
;
a
sio:SIO_001121
.
}
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_provenance
{
dgn-np:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_assertion
dcterms:description
"[Neither male could be shown to be mosaic for the FLN1 mutation in peripheral blood lymphocytes, suggesting that some neurons in the intact cortex of PH males may be mutant for FLN1 but migrate adequately.]. 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:11532987
;
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:NP658023.RABpa4IK1HocZlbhV8T6tUx0nwuUYxU9Txfws9H_R1yVM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:36+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" .
}