|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
|
26043044 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
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 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
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)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
|
24158611 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
|
24158611 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
|
21777984 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families.
|
21962949 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
|
19929407 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
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)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Connexin 26 studies in patients with sensorineural hearing loss.
|
11556849 |
2001 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
2000 |