Barbara Anna Bokor

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Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

2 months ago | mdpi.com | Nikoletta Nagy |Margit Pál |Barbara Anna Bokor |Roland Nagy

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Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

Jan 13, 2025 | preprints.org | Nikoletta Nagy |Barbara Anna Bokor |János András Jarabin

Submitted:12 January 2025You are already at the latest version Autosomal dominant non-syndromic hearing loss (ADNSHL) is a genetically heterogenic condition. The transformation/transcription domain associated protein (TRRAP) gene has been recently associated with ADNSHL and only four variants of the gene have so far been reported in this disease.

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