Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.A438T
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TMC1

NM_138691.3:p.A438T

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Ramzan M et al.

Journal of Human Genetics, 2023

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

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."