@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q
> .
@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:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_head
{
this:
np:hasAssertion
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion
;
np:hasProvenance
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion
a
np:Assertion
.
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance
a
np:Provenance
.
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion
{
miriam-gene:224
a
ncit:C16612
.
lld:C0275814
a
ncit:C7057
.
dgn-gda:DGNfc0f081439b22509b023fba51a14158a
sio:SIO_000628
miriam-gene:224
,
lld:C0275814
;
a
sio:SIO_001121
.
}
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_provenance
{
dgn-np:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_assertion
dcterms:description
"[These observations document significant clinical variability and the nonprogressive neurological course of SLS in adult siblings with the same ALDH3A2 genotype, and demonstrate possible correlation of proton magnetic resonance spectroscopic changes with age, suggesting unknown pathogenic mechanisms to compensate for the responsible biochemical defect in this disease.]. 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:16476818
;
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:NP234944.RA9lhIoqe0jVtUzxBHN8WAkwblK096IfErmTSgl0AOz8Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:53+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: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" .
}