rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
|
26444186 |
2016 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
|
26252218 |
2015 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
rs1801002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
|
25625422 |
2015 |
rs1801002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
|
26043044 |
2015 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
|
24256046 |
2014 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
|
25401782 |
2014 |
rs1801002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
rs587783647
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
rs76434661
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
|
24529908 |
2014 |
rs76434661
|
|
T |
0.700 |
GeneticVariation |
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 |
rs786204597
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
|
24949729 |
2014 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
|
23668481 |
2013 |
rs1801002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
|
24158611 |
2013 |
rs779018464
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
|
23680645 |
2013 |
rs786204597
|
|
T |
0.700 |
GeneticVariation |
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 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
|
22613756 |
2012 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
rs76434661
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
rs786204597
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
rs786204597
|
|
T |
0.700 |
GeneticVariation |
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 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
|
20863150 |
2011 |