@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo
> .
@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:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_head
{
this:
np:hasAssertion
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_assertion
;
np:hasProvenance
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_provenance
;
np:hasPublicationInfo
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_assertion
a
np:Assertion
.
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_provenance
a
np:Provenance
.
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_assertion
{
miriam-gene:4143
a
ncit:C16612
.
lld:C0268621
a
ncit:C7057
.
dgn-gda:DGN8ca3fb1a4ea0ec2c34fb81df50717c5b
sio:SIO_000628
miriam-gene:4143
,
lld:C0268621
;
a
sio:SIO_001121
.
}
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_provenance
{
dgn-np:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_assertion
dcterms:description
"[More than half of the 16 cases of isolated hypermethioninemia had mutations in the MAT1A gene, and four of the eight MAT1A mutations identified in this study have not been reported before.]. 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:15935930
;
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:NP833015.RAgyKJzjZ7ae5rGAZ9sxzeZAvmd4eWeK95J_dwHJFwzlo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:29+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" .
}