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Schema c diagram of gap junction protein beta 1 and GJB variants in our cohort, from Bone et al. [16] and Barbat du Closel [15]. All reported missense, nonsense and frameshift GJB1 mutations are indicated with a colored circle. The five variants in the non‐coding regions and the complete coding sequence deletion (c.1_852del) are not indicated. C term, C‐terminal domain; EC, extracellular domain; IC, intracellular domain; N term, N‐terminal domain; TM, transmembrane.
