Associated Papers
Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.
Chen L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Development of in-house genetic screening for pediatric hearing loss.
Doerfer KW et al.
Laryngoscope Investigative Otolaryngology, 2020
Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.
Rodriguez-Paris J et al.
Peerj, 2016
Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.
Kim SY et al.
International Journal of Audiology, 2011
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