PMID 26252218 2015 Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
PMID 25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
PMID 17041943 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.
rs104894408 in
GJB2 gene and
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
PMID 17041943 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
PMID 25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.
PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
PMID 20154630 2010 Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
PMID 26252218 2015 Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
rs104894408 in
GJB2 gene and
Senter syndrome
PMID 12752120 2003 Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
PMID 12548749 2003 De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
PMID 11912510 2002 Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.