rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
|
26749107 |
2016 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.
|
21912263 |
2011 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.
|
21094084 |
2011 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
|
21287563 |
2011 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
|
21287563 |
2011 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.
|
21094084 |
2011 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
|
20553101 |
2010 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
|
18758381 |
2008 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Temporal bone imaging in GJB2 deafness.
|
17146393 |
2006 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|
17041943 |
2006 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|
17041943 |
2006 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
|
16931589 |
2006 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
|
16222667 |
2005 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
|
14681040 |
2004 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
|
14681040 |
2004 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
|
14694360 |
2004 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
|
14694360 |
2004 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The M34T allele variant of connexin 26.
|
11216656 |
2000 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
11102979 |
2000 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
11102979 |
2000 |
rs143343083
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
10376574 |
1999 |