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GJB2: Frequency of the less common variants in a sample of the Portuguese popul...

Reis, CS; Santos, AC; Barros, H; Fernandes, S; Moura, C

Introduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. Material and Methods: In order to select the less common GJB2 variants, ...


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