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http://rdf.disgenet.org/nanopublications.trig#NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_head
{
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np:hasAssertion
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Assertion
.
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_provenance
a
np:Provenance
.
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:326625
a
ncit:C16612
.
lld:C0276096
a
ncit:C7057
.
dgn-gda:DGNc5c6e8e59a5c01418f8fc50937b1d75e
sio:SIO_000628
miriam-gene:326625
,
lld:C0276096
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a
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.
}
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_provenance
{
dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_assertion
dcterms:description
"[Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically divided into two subtypes mut- and mut0 MMA, and three different defects involved in the synthesis of the active form of the cofactor adenosylcobalamin, termed cbl MMA, and classified into three different complementation groups cblA, cblB, and cblH associated with defects in the MMAA and MMAB genes and with an unidentified protein, respectively.]. 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:15781192
;
prov:wasDerivedFrom
dgn-void:befree-20140225
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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 .
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dgn-np:NP182105.RAcZGJB84fbeJVJH5myDBiYg2H_WOwciSd7fzKWxL1FSA130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
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;
prv:usedData
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> , <
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> ;
pav:createdBy
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> ;
pav:version
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}