Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.F71S
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TMPRSS3

NM_001256317.3:p.F71S

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Mitochondrial Hearing Loss: Genetic Variants and Clinical Progression.

Miwa T et al.

Cureus, 2025

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_S5

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Moon IS et al.

Frontiers in Genetics, 2021

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_4

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

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

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
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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."