Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI et al.
Plos One, 2019
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa Y et al.
Bmc Medical Genetics, 2013
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M et al.
Human Mutation, 2008
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