Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.A79Splc
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TMC1

NM_138691.3:p.A79Splc

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

Variant analysis of 92 Chinese Han families with hearing loss.

Jin X et al.

Bmc Medical Genomics, 2022

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

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

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

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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