@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM
> .
@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:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_head
{
this:
np:hasAssertion
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_assertion
;
np:hasProvenance
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_provenance
;
np:hasPublicationInfo
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_assertion
a
np:Assertion
.
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_provenance
a
np:Provenance
.
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_assertion
{
miriam-gene:2182
a
ncit:C16612
.
lld:C3714756
a
ncit:C7057
.
dgn-gda:DGN72736f06b8cce82adafbc3c6c8d139be
sio:SIO_000628
miriam-gene:2182
,
lld:C3714756
;
a
sio:SIO_001121
.
}
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_provenance
{
dgn-np:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_assertion
dcterms:description
"[We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene.]. 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:20186809
;
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:NP393803.RAzazSNxPapL01nNwPC_Bl0CXDvSuGeTOTUw7U361G-wM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:28+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" .
}