Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
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
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
Huang S et al.
Biomed Research International, 2020
32090102 (PubMed )
Supplement: 6370386.f1.xlsx › Supplemental_table_4
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
A Mayan founder mutation is a common cause of deafness in Guatemala.
Carranza C et al.
Clinical Genetics, 2016
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
Kim HR et al.
Human Genetics, 2016
[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].
Cui Qingjia et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
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.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
Felix F et al.
Brazilian Journal of Otorhinolaryngology, 0
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