1. A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family
   Xi Shi et al, 2018, Journal of Clinical Laboratory Analysis CrossRef
2. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options
   Nandita Sharma et al, 2023, Clinical Genetics CrossRef
3. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains
   Olga L. Posukh et al, 2023, Biomolecules CrossRef
4. Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder
   Kazunori Namba et al, 2016, Otology & Neurotology CrossRef
5. A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family
   Haiou Jiang et al, 2018, BioScience Trends CrossRef
6. Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness
   Xi Shi et al, 2016, Journal of Otology CrossRef