dgn-np:NP890073.RASu4lXmaZi_Gkt5tm72TrQsOFZ9jJYGftYHF6KoTCwiI130_provenance {
dgn-np:NP890073.RASu4lXmaZi_Gkt5tm72TrQsOFZ9jJYGftYHF6KoTCwiI130_assertion dcterms:description "[There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber's hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome.]. 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:22215554 ;
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 .
}