Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.G232R
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CLDN14

NM_001146079.2:p.G232R

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.

Seker M et al.

International Journal of Molecular Sciences, 2019

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

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

Kim MA et al.

Plos One, 2014

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Charif M et al.

Indian Journal of Human Genetics, 2013

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Lee K et al.

American Journal of Medical Genetics. Part A, 2012

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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."