Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.E551delFs
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OTOF

NM_194248.3:p.E551delFs

Associated Papers

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.

Vona B et al.

Genes, 2020

33256196 (PubMed )
Supplement: genes-11-01411-s001.xlsx › OTOF_NM_001287489

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P et al.

Bmc Biotechnology, 2010

20146813 (PubMed )
Supplement: 1472-6750-10-10-S1.PDF

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.

Chiu YH et al.

Audiology & Neuro-otology, 2010

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

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R et al.

Journal of Medical Genetics, 2006

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Rodríguez-Ballesteros M et al.

Human Mutation, 2003

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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."