@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0
> .
@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/v4.0.0/void/
> .
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_head
{
this:
np:hasAssertion
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion
;
np:hasProvenance
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion
a
np:Assertion
.
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance
a
np:Provenance
.
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion
{
miriam-gene:875
a
ncit:C16612
.
lld:C0019880
a
ncit:C7057
.
dgn-gda:DGN7e688b9d2d7d73946d9345f5fd47dffe
sio:SIO_000628
miriam-gene:875
,
lld:C0019880
;
a
sio:SIO_001121
.
}
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance
{
dgn-np:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion
dcterms:description
"[We conclude that fibroblast levels of CBS are only partially effective as prognosticators of disease severity and that it is important to test the in vivo response to vitamin B6 in all cases of homocystinuria, including those in which the mutations lead to the absence of the enzyme in cultured fibroblasts.]. 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:7981678
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:48+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}