Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Abstract Background Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is responsible for proper structure and function of stereo...

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Main Authors: Agnieszka Pollak (Author), Urszula Lechowicz (Author), Victor Abel Murcia Pieńkowski (Author), Piotr Stawiński (Author), Joanna Kosińska (Author), Henryk Skarżyński (Author), Monika Ołdak (Author), Rafał Płoski (Author)
Format: Book
Published: BMC, 2017-12-01T00:00:00Z.
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