| Q41129000 | A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss. |
| Q30495323 | A genotype-phenotype correlation for GJB2 (connexin 26) deafness |
| Q57304603 | A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family |
| Q44465437 | A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss |
| Q35919085 | A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. |
| Q27309987 | Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix |
| Q38615181 | Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract |
| Q28539867 | Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans |
| Q50316779 | Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss |
| Q28293305 | Connexin 26 mutations in autosomal recessive deafness disorders: a review |
| Q50487331 | Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. |
| Q21129235 | Connexin and Pannexin hemichannels are regulated by redox potential |
| Q34141214 | Connexin mutations in skin disease and hearing loss |
| Q36031035 | Connexinopathies: a structural and functional glimpse |
| Q79243195 | 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 |
| Q37836200 | Do cell junction protein mutations cause an airway phenotype in mice or humans? |
| Q28217345 | GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review |
| Q35155570 | Genetic screening for deafness. |
| Q34306434 | Genetics and molecular biology of deafness. Update |
| Q34685630 | Human connexin disorders of the skin |
| Q34029118 | Modifier genes of hereditary hearing loss |
| Q50431893 | Molecular diagnosis of hearing loss |
| Q50452138 | Molecular diagnosis of hearing loss |
| Q34747004 | Non-syndromic autosomal-dominant deafness |
| Q50430454 | Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss |
| Q43448705 | Phenotypes of two Dutch DFNA3 families with mutations in GJB2. |
| Q44173488 | The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family |
| Q54572793 | Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. |
| Q44880701 | W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness |