Varaico: Literature-Extracted Genetic Variants

Gene:AIFM1
Variant:p.P488L
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AIFM1

NM_004208.4:p.P488L

Associated Papers

Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.

Yuan F et al.

The Journal of International Advanced Otology, 2025

Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.

Wang R et al.

Frontiers in Genetics, 2022

High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.

Wang H et al.

Neural Plasticity, 2020

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."