dgn-np:NP4883.RAgpmugg0J-f32mXQ53dI3K2Cc9HR5n04JLFpO1Ym-ebk130_provenance {
  dgn-np:NP4883.RAgpmugg0J-f32mXQ53dI3K2Cc9HR5n04JLFpO1Ym-ebk130_assertion dcterms:description "[The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5.0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0.3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0.1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:1732158 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}