Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.*1998R
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OTOF

NM_194248.3:p.*1998R

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

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.

Matsunaga T et al.

Clinical Genetics, 2012

Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.

Kitao K et al.

Ear and Hearing, 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."