|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
|
20553101 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
|
12081719 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Infant hearing loss and connexin testing in a diverse population.
|
18580690 |
2008 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
|
12560944 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
|
12865758 |
2004 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
|
19125024 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
|
12792423 |
2003 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
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 RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
|
26749107 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
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 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
|
21738759 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.
|
19235794 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A large cohort study of GJB2 mutations in Japanese hearing loss patients.
|
20497192 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
|
17428836 |
2007 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
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 RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
|
24949729 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
|
22785241 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
|
25085072 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
|
22592158 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
|
19371219 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
|
26553399 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |