Article

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss

2023-08-29

Abstract excerpt

<title>Abstract</title> <p><bold>OBJECTIVES</bold> The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby facilitating investigation of molecular pathogenesis of missense variants of <italic>GJB2</italic>. This study mainly focused on R143W variant that causes hearing loss, and investigated the relationship betwee...

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Literature Corpus work: b8d0e5a4-d508-5892-815e-9e5abeb5d2af
DOI: 10.21203/rs.3.rs-3265320/v1

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