@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU
> .
@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:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_head
{
this:
np:hasAssertion
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion
;
np:hasProvenance
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance
;
np:hasPublicationInfo
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion
a
np:Assertion
.
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance
a
np:Provenance
.
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion
{
miriam-gene:4552
a
ncit:C16612
.
lld:C0019880
a
ncit:C7057
.
dgn-gda:DGN60cee9a808879ab0a0b8ca3302d41bcb
sio:SIO_000628
miriam-gene:4552
,
lld:C0019880
;
a
sio:SIO_001121
.
}
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_provenance
{
dgn-np:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_assertion
dcterms:description
"[Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR 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:12555939
;
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:NP345839.RAh8dLS_GaPz-IClhZeKGra2d4MzbtBUVT7vw4fjKFbRU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}