dgn-np:NP897171.RABC_zcBkiK6xmJtiHfR07piA3hCdNTYxSTfKYZOZ5HtM130_provenance {
dgn-np:NP897171.RABC_zcBkiK6xmJtiHfR07piA3hCdNTYxSTfKYZOZ5HtM130_assertion dcterms:description "[Recently, mutations in the RRM2B gene, encoding the p53-controlled ribonucleotide reductase subunit, have been described in seven infants from four families, who presented with various combinations of hypotonia, tubulopathy, seizures, respiratory distress, diarrhea, and lactic acidosis.]. 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:18504129 ;
prov:wasDerivedFrom dgn-void:befree-20150227 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^
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 .
}