Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.E104K
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TMPRSS3

NM_001256317.3:p.E104K

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Moon IS et al.

Frontiers in Genetics, 2021

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

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Lee K et al.

Clinical Genetics, 2012

Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.

Elander J et al.

Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0

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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."