@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY
> .
@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:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_head
{
this:
np:hasAssertion
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_assertion
;
np:hasProvenance
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_provenance
;
np:hasPublicationInfo
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_assertion
a
np:Assertion
.
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_provenance
a
np:Provenance
.
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_assertion
{
miriam-gene:95
a
ncit:C16612
.
lld:C0220754
a
ncit:C7057
.
dgn-gda:DGN7e5ce0750c23bef7639385bc65f5ae60
sio:SIO_000628
miriam-gene:95
,
lld:C0220754
;
a
sio:SIO_001121
.
}
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_provenance
{
dgn-np:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_assertion
dcterms:description
"[The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject).]. 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:16465618
;
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:NP391601.RASNm8EX1wlZMi-AivqvQWR6EeRxe8l7vvCOWI9dqgybY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:53+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" .
}