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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

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Description scientific article published on 6 July 2017
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author: Peter Charbel Issa  Shahid M Baig  Hanno J Bolz 

Publication date July 6, 2017
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