@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8
> .
@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/v4.0.0/void/
> .
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_head
{
this:
np:hasAssertion
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion
;
np:hasProvenance
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance
;
np:hasPublicationInfo
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion
a
np:Assertion
.
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance
a
np:Provenance
.
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion
{
miriam-gene:10376
a
ncit:C16612
.
lld:C1879312
a
ncit:C7057
.
dgn-gda:DGNf915e8b7a1da5e896b1172bd0f2ee679
sio:SIO_000628
miriam-gene:10376
,
lld:C1879312
;
a
sio:SIO_001121
.
}
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance
{
dgn-np:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:50+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}