Varaico: Literature-Extracted Genetic Variants

Gene:TNC
Variant:p.T1796S
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TNC

NM_002160.4:p.T1796S

Associated Papers

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss.

He M et al.

Bmc Medical Genomics, 2024

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.

Li S et al.

Medicine, 2024

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.

Gan NS et al.

Audiology & Neuro-otology, 2023

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y et al.

Plos One, 2013

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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."