Associated Papers
AIF3 splicing variant elicits mitochondrial malfunction via the concurrent dysregulation of electron transport chain and glutathione-redox homeostasis.
Zhou M et al.
Nature Communications, 2025
39979311 (PubMed )
Supplement: 41467_2025_57081_MOESM4_ESM.zip › Source_Data_YW.xlsx › AIF_mutation_list
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB et al.
Molecular Genetics and Metabolism, 2014
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