Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
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
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 2020
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Bano D et al.
Ebiomedicine, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L et al.
Journal of Medical Genetics, 2015
Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family.
Wang Q et al.
Genetics and Molecular Biology, 0
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