Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.R1284C
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TECTA

NM_005422.4:p.R1284C

Associated Papers

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

Yang Y et al.

Human Molecular Genetics, 2025

40583560 (PubMed )
Supplement: tab_s3_all_known_mutations_of_tecta-5-9_ddaf109.pdf

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Yang Y et al.

Human Molecular Genetics, 2024

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.

Yasukawa R et al.

Genes, 2019

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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."