Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.H989Q
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TECTA

NM_005422.4:p.H989Q

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.

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S5

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Santos-Cortez RLP et al.

Genes, 2021

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

Ishikawa K et al.

Acta Oto-laryngologica, 2014

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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."