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
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.
Wang R et al.
Frontiers in Genetics, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 2020
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
Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy.
Zanin J et al.
Ear and Hearing, 0
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