|
Deafness, Autosomal Recessive 12
|
|
0.800 |
CausalMutation
|
CLINVAR |
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.
|
26264712 |
2015 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
|
24767429 |
2014 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
CausalMutation
|
CLINVAR |
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
|
24618850 |
2014 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
CausalMutation
|
CLINVAR |
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
|
23967202 |
2013 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
|
22899989 |
2012 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
|
22899989 |
2012 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
CausalMutation
|
CLINVAR |
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
|
17850630 |
2007 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
|
17850630 |
2007 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
|
16679490 |
2006 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
|
15829536 |
2005 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
|
12522556 |
2003 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
|
12075507 |
2002 |
|
Deafness, Autosomal Recessive 12
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
|
11090341 |
2001 |