@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE
> .
@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:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_head
{
this:
np:hasAssertion
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion
;
np:hasProvenance
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance
;
np:hasPublicationInfo
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion
a
np:Assertion
.
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance
a
np:Provenance
.
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion
{
miriam-gene:4524
a
ncit:C16612
.
lld:C0002871
a
ncit:C7057
.
dgn-gda:DGNff73216dc1d8d593809fb10cab050da8
sio:SIO_000628
miriam-gene:4524
,
lld:C0002871
;
a
sio:SIO_001121
.
}
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_provenance
{
dgn-np:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_assertion
dcterms:description
"[We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency.]. 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:9453374
;
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:NP164877.RAAmwsVd48Rf_J8bi3LztYRZ5C5P79A09LJmWr3LT3oXE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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" .
}