Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.N1795Splc
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TECTA

NM_005422.4:p.N1795Splc

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.

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

Hearing Loss Secondary to TECTA Gene Mutations.

González-Aguado R et al.

The Annals of Otology, Rhinology, and Laryngology, 2025

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

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Corriols-Noval P et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022

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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."