Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.I56delFs
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OTOF

NM_194248.3:p.I56delFs

Associated Papers

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

Morris JA et al.

International Journal of Molecular Sciences, 2026

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J et al.

Plos One, 2023

Genetic etiology of hearing loss in Russia.

Posukh OL

Human Genetics, 2022

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.

Koohiyan M et al.

Intractable & Rare Diseases Research, 2019

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Fedick AM et al.

The Application of Clinical Genetics, 2016

Republished: Genetic investigations in childhood deafness.

Parker M et al.

Postgraduate Medical Journal, 2015

Genetic investigations in childhood deafness.

Parker M et al.

Archives of Disease in Childhood, 2015

Genetics of hearing and deafness.

Angeli S et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Genetics of congenital hearing impairment: a clinical approach.

Tranebaerg L

International Journal of Audiology, 2008

Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

Cheng X et al.

American Journal of Medical Genetics. Part A, 2005

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Lin D et al.

Human Mutation, 2001

Molecular genetics of hearing loss.

Petit C et al.

Annual Review of Genetics, 2001

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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."