Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.C1301*
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TECTA

NM_005422.4:p.C1301*

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

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

Behlouli A et al.

International Journal of Pediatric Otorhinolaryngology, 2016

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Babanejad M et al.

American Journal of Medical Genetics. Part A, 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."