DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
|
31160754 |
2019 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
|
26444186 |
2016 |
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 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 |
GeneticVariation
|
disease |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
|
26252218 |
2015 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
|
26397989 |
2015 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
|
25625422 |
2015 |
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 |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
|
24529908 |
2014 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
|
24949729 |
2014 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
|
24256046 |
2014 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
|
25266519 |
2014 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
|
23668481 |
2013 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
|
24158611 |
2013 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
|
23680645 |
2013 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
|
22991996 |
2013 |
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 |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
|
22613756 |
2012 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
|
22567861 |
2012 |