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Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C et al.
Brain : a Journal of Neurology, 2025
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA et al.
Nature Communications, 2022
35551192 (PubMed )
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