@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78
> .
@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:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_head
{
this:
np:hasAssertion
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_assertion
;
np:hasProvenance
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_provenance
;
np:hasPublicationInfo
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_assertion
a
np:Assertion
.
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_provenance
a
np:Provenance
.
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_assertion
{
miriam-gene:166785
a
ncit:C16612
.
lld:C0268583
a
ncit:C7057
.
dgn-gda:DGN308ee26f7ce570e8f5e87cec353587e8
sio:SIO_000628
miriam-gene:166785
,
lld:C0268583
;
a
sio:SIO_001121
.
}
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_provenance
{
dgn-np:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_assertion
dcterms:description
"[Because of their high sequence homology, the missense mutations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, in conjunction with mutagenesis data, provide possible explanations for the pathology of 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:17728257
;
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:NP706249.RAnOl0Kd2t71wh4TSLf9SFElYipz8J29q6aaRf3uvTy78130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:09+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" .
}