Article

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

2025-01-13

Abstract excerpt

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. (1) Here, we report on a Hungarian ADNSHL family, in which the affected individuals exhibited sensorineural hearing loss with simil...

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Literature Corpus work: 1d0a02f5-a194-5576-bd6b-0167c0130a39
DOI: 10.20944/preprints202501.0889.v1

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