Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.G1654Splc
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OTOF

NM_194248.3:p.G1654Splc

Associated Papers

Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

Lin PH et al.

Molecular Medicine (cambridge, Mass.), 2025

Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.

Yang JH et al.

American Journal of Translational Research, 2025

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Antunes LN et al.

Frontiers in Genetics, 2024

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

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

Vona B et al.

Genes, 2020

Cochlear Implantation Outcomes in Patients With OTOF Mutations.

Zheng D et al.

Frontiers in Neuroscience, 2020

32508568 (PubMed )
Supplement: Table_1.xlsx › Genotype

Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.

Zhai R et al.

Biomed Research International, 2020

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients.

Wu CC et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2018

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.

Zhang QJ et al.

Clinical Genetics, 2016

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Wang J et al.

Plos One, 2011

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

Chiu YH et al.

Audiology & Neuro-otology, 2010

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Romanos J et al.

Journal of Human Genetics, 2009

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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."