Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.L416R
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TMC1

NM_138691.3:p.L416R

Associated Papers

New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.

Beurg M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.

Yoon PJ et al.

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

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.

Xu P et al.

Neural Plasticity, 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

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.

Chen Y et al.

Disease Markers, 2018

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.

Chen Y et al.

Plos One, 2015

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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."