Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.A94V
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CLDN14

NM_001146079.2:p.A94V

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

Association study of CLDN14 variations in patients with kidney stones.

Ullah I et al.

Open Life Sciences, 2022

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

Kitano T et al.

International Journal of Molecular Sciences, 2019

Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.

Lu Y et al.

International Journal of Pediatric Otorhinolaryngology, 2018

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Pater JA et al.

Human Genetics, 2017

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

Bashir ZE et al.

Journal of Human Genetics, 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."