Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
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Carsten Bergmann | Peter Nürnberg | Ahmad Mansour | A. Mansour | I. Ebermann | H. Bolz | T. Eisenberger | G. Nürnberg | P. Nürnberg | R. Slim | C. Bergmann | C. Decker | M. Nauck | Gudrun Nürnberg | Tobias Eisenberger | Rima Slim | Markus Nauck | Christian Decker | Claudia Dafinger | Inga Ebermann | Hanno Jörn Bolz | C. Dafinger | Claudia Dafinger
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