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Wiley Open Access, Molecular Genetics and Genomic Medicine, 5(5), p. 531-552, 2017

DOI: 10.1002/mgg3.312

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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

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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