GJB2
NM_004004.6:p.E187_C202insFs
Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.
Li H et al.
Orphanet Journal of Rare Diseases, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss.
Jin Y et al.
Journal of Clinical Medicine, 2022
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Sun Y et al.
Bmc Medical Genomics, 2021
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.
Erdenechuluun J et al.
Plos One, 2018