@prefix dcterms: .
@prefix this: .
@prefix sub: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-gda: .
@prefix dgn-void: .
sub:head {
this: np:hasAssertion sub:assertion;
np:hasProvenance sub:provenance;
np:hasPublicationInfo sub:publicationInfo;
a np:Nanopublication .
}
sub:assertion {
dgn-gda:DGN230aba886b7141e682d1e9c9964d21f4 sio:SIO_000628 miriam-gene:5290, lld:C0276096;
a sio:SIO_001122 .
}
sub:provenance {
sub: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;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}
sub:publicationInfo {
this: dcterms:created "2017-10-17T13:15:22+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v5.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}