Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.R81C
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CLDN14

NM_001146079.2:p.R81C

Associated Papers

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

Tlili A et al.

Genes, 2024

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.

Kitano T et al.

International Journal of Molecular Sciences, 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."