Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.R1773*
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TECTA

NM_005422.4:p.R1773*

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

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

Legan PK et al.

Human Molecular Genetics, 2014

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.

Moteki H et al.

Journal of Human Genetics, 2012

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

Abe S et al.

Genetic Testing, 2007

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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."