Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.D1499H
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TECTA

NM_005422.4:p.D1499H

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

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

Mutai H et al.

Plos Genetics, 2020

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."