Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.Q203*
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TMPRSS3

NM_001256317.3:p.Q203*

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

39614311 (PubMed )
Supplement: 12920_2024_2055_MOESM1_ESM.xlsx › Sheet1

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Colbert BM et al.

Human Genetics, 2024

38691166 (PubMed )
Supplement: 439_2024_2648_MOESM4_ESM.xlsx › eTable_2_All_Participants

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.

Nisenbaum E et al.

Audiology & Neuro-otology, 2023

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Moon IS et al.

Frontiers in Genetics, 2021

Cochlear Implantation From the Perspective of Genetic Background.

Usami SI et al.

Anatomical Record (hoboken, N.j. : 2007), 2020

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C et al.

International Journal of Audiology, 2019

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.

Sang S et al.

Frontiers in Genetics, 2019

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

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

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

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

Miyagawa M et al.

Plos One, 2013

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