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
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M et al.
Journal of Medical Genetics, 2022
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.
Wang R et al.
Frontiers in Genetics, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S et al.
Human Heredity, 2020
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