|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
|
11438992 |
2001 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
11102979 |
2000 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
|
16222667 |
2005 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional study of GJB2 in hereditary hearing loss.
|
12352684 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
12668604 |
2003 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.
|
23967136 |
2013 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
|
19929407 |
2010 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
|
12792423 |
2003 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
|
26043044 |
2015 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
|
9856479 |
1998 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
|
12786758 |
2003 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
|
12189493 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
|
25401782 |
2014 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
|
16931589 |
2006 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
|
23856378 |
2013 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical presentation of DFNB1.
|
12408072 |
2002 |
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |