Associated Papers
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31160754 (PubMed )
Supplement: NIHMS1586971-supplement-1586971_SuppTable2.xlsx › SupplementaryTable2
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Tayoun AN et al.
Human Mutation, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
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