@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk
> .
@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:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_head
{
this:
np:hasAssertion
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_assertion
;
np:hasProvenance
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_provenance
;
np:hasPublicationInfo
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_assertion
a
np:Assertion
.
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_provenance
a
np:Provenance
.
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_assertion
{
miriam-gene:10376
a
ncit:C16612
.
lld:C0266463
a
ncit:C7057
.
dgn-gda:DGNcbb54b45c85db9b5d20bef06587a64c4
sio:SIO_000628
miriam-gene:10376
,
lld:C0266463
;
a
sio:SIO_001121
.
}
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_provenance
{
dgn-np:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_assertion
dcterms:description
"[More recently, de novo missense mutations in the alpha-tubulin 1a gene (TUBA1A) located on chromosome 12q13.12, have also been associated with more or less severe defects of cortical development, resulting in complete agyria in the most severe cases of 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:20376468
;
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:NP841454.RAFYLtf18a-F-vhimXPJg6ifIdxe-beZ7RzM-Zby0yMCk130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:11+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" .
}