Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.S1202F
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TECTA

NM_005422.4:p.S1202F

Associated Papers

Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.

Joo SY et al.

Scientific Reports, 2025

41023131 (PubMed )
Supplement: 41598_2025_18852_MOESM1_ESM.pdf

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

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.

Liu C et al.

Frontiers in Genetics, 2025

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."