Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.V199M
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TMPRSS3

NM_001256317.3:p.V199M

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Fehrmann MLA et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2025

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

Rescue of Auditory Function by a Single Administration of AAV- TMPRSS3 Gene Therapy in Aged Mice of Human Recessive Deafness DFNB8.

Du W et al.

Biorxiv : the Preprint Server for Biology, 2023

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Moon IS et al.

Frontiers in Genetics, 2021

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

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Weegerink NJ et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2011

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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."