Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.L56delFs
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CDH23

NM_022124.6:p.L56delFs

Associated Papers

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

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

Xu T et al.

Molecular Medicine Reports, 2019

The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.

Xu T et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 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

Genetics of hearing and deafness.

Angeli S et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

Miyagawa M et al.

Plos One, 2012

Cochlear implantation in common forms of genetic deafness.

Vivero RJ et al.

International Journal of Pediatric Otorhinolaryngology, 2010

Modifiers of hearing impairment in humans and mice.

Yan D et al.

Current Genomics, 2010

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

Usami S et al.

Acta Oto-laryngologica, 2008

Frequency of the 35delG allele causing nonsyndromic recessive deafness in the Algerian patients.

Ammar-Khodja F et al.

Genetic Counseling (geneva, Switzerland), 2007

The genetics of deafness.

Nance WE

Mental Retardation and Developmental Disabilities Research Reviews, 2003

Molecular genetics of hearing loss.

Petit C et al.

Annual Review of Genetics, 2001

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Hilgert N et al.

Mutation Research, 0

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