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
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Low_Priority
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
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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