Associated Papers
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
Rezaie N et al.
Bmc Medical Genomics, 2024
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_S9
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K et al.
Communications Biology, 2022
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS et al.
Frontiers in Genetics, 2021
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
30872718 (PubMed )
Supplement: 41598_2019_41068_MOESM1_ESM.pdf
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
Gao X et al.
Biomed Research International, 2017
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X et al.
Neural Plasticity, 2017
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J et al.
Journal of Molecular Medicine (berlin, Germany), 2014
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Lee K et al.
Clinical Genetics, 2012
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Charif M et al.
Biochemical and Biophysical Research Communications, 2012
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Hutchin T et al.
Clinical Genetics, 2005
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