dgn-np:NP739540.RAssliNdpnQ2V92hCqCNzL24a2Z4Enj_oG-yj4xJsH47g130_provenance {
dgn-np:NP739540.RAssliNdpnQ2V92hCqCNzL24a2Z4Enj_oG-yj4xJsH47g130_assertion dcterms:description "[Two mutations in the human TK2 gene, His-121 to Asn and Ile-212 to Asn, were recently described in patients with severe mtDNA depletion myopathy (Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., and Elpeleg, O.]. 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:12493767 ;
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 .
}