Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02479-0.pdf
Reference43 articles.
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2. Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Smith RJH (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103(4):484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
3. Bai D, Yue B, Aoyama H (2018) Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking. Biochim Biophys Acta Biomembr 1860(1):9–21. https://doi.org/10.1016/j.bbamem.2017.07.003
4. Beach R, Abitbol JM, Allman BL, Esseltine JL, Shao Q, Laird DW (2020) GJB2 mutations linked to hearing loss exhibit differential trafficking and functional defects as revealed in cochlear-relevant cells. Front Cell Dev Biol. https://doi.org/10.3389/fcell.2020.00215
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