DOI:
10.1055/s-00000031
Klinische Monatsblätter für Augenheilkunde
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References
Neuhaus C, Eisenberger T, Decker C. et al.
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.
Mol Genet Genomic Med 2017;
5: 531-552
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