Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.K468_I469Splc
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TMC1

NM_138691.3:p.K468_I469Splc

Associated Papers

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

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

Al Mutery A et al.

Saudi Journal of Biological Sciences, 2023

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

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Imtiaz A et al.

Neurogenetics, 2016

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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."