Associated Papers
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 )
Supplement: 41467_2022_30223_MOESM4_ESM.xlsx › MAF0.005_VariantsWES
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.
Triepels R et al.
Human Genetics, 2000
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