Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.N369K
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TMC1

NM_138691.3:p.N369K

Associated Papers

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

Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins.

Ballesteros A et al.

Elife, 2018

30063209 (PubMed )
Supplement: elife-38433-fig4-data1.xlsx › Sheet1

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

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

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

Bakhchane A et al.

Gene, 2015

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

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T et al.

Orphanet Journal of Rare Diseases, 2013

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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."