Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.G368Fs
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OTOF

NM_194248.3:p.G368Fs

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

A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.

Tabatabaiefar MA et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2018

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

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

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

Chiu YH et al.

Audiology & Neuro-otology, 2010

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

Choi BY et al.

Clinical 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."