Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.E394insFs
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OTOF

NM_194248.3:p.E394insFs

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

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

Сhurbanov AY et al.

Plos One, 2016

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

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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."