@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g
> .
@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:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_head
{
this:
np:hasAssertion
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion
;
np:hasProvenance
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance
;
np:hasPublicationInfo
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion
a
np:Assertion
.
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance
a
np:Provenance
.
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion
{
miriam-gene:212
a
ncit:C16612
.
lld:C0002896
a
ncit:C7057
.
dgn-gda:DGNd6e7ce3902bc7e88eaeed23280cf158b
sio:SIO_000628
miriam-gene:212
,
lld:C0002896
;
a
sio:SIO_001121
.
}
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance
{
dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion
dcterms:description
"[Analysis of the inheritance of this intragenic polymorphism showed that the affected sibs received different maternal alleles at the ALAS2 locus, excluding mutations in this gene as the cause of their sideroblastic anaemia.]. 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:7912287
;
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:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:37+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" .
}