A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts
Article in Molecular Genetics & Genomic Medicine (February 2024)
The most recent citing publications are shown below. View all 5 publications that cite this research output on Dimensions.
AAV‐Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness
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The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
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