Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.T208_D209Splc
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CDH23

NM_022124.6:p.T208_D209Splc

Associated Papers

Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report.

Sun J et al.

Medicine, 2024

Identification of novel cadherin 23 variants in a Chinese family with hearing loss.

Xu T et al.

Molecular Medicine Reports, 2019

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Kim SY et al.

Journal of Translational Medicine, 2015

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

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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."