Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.M654V
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TMC1

NM_138691.3:p.M654V

Associated Papers

Altered Pore Composition and Flexibility in a Deafness-Associated TMC1 Variant: Insights from Molecular Dynamics Simulations.

Zamboni D et al.

Acs Chemical Neuroscience, 2025

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.

Zhang L et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.

Pavlenkova Z et al.

Scientific Reports, 2021

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Zardadi S et al.

Molecular Genetics & Genomic Medicine, 2020

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Ramzan K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.

Singh PK et al.

The Indian Journal of Medical Research, 2017

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.

Hu J et al.

Journal of Translational Medicine, 2016

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Bakhchane A et al.

Gene, 2015

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X et al.

Plos One, 2013

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

de Heer AM et al.

Audiology & Neuro-otology, 2011

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

Sirmaci A et al.

International Journal of Pediatric Otorhinolaryngology, 2009

Gene symbol: TMC1. Disease: Deafness.

Hilgert N

Human Genetics, 2008

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N et al.

Clinical Genetics, 2008

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Santos RL et al.

Human Mutation, 2005

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Kurima K et al.

Nature Genetics, 2002

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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."