Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.N466del1
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TMC1

NM_138691.3:p.N466del1

Associated Papers

[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness].

Ren S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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

29654653 (PubMed )
Supplement: MGG3-6-504-s001.docx

Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China.

Jiang Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.

Lin F et al.

International Journal of Pediatric Otorhinolaryngology, 2014

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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."