Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.A256V
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TMPRSS3

NM_001256317.3:p.A256V

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

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

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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

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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."