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Author Report for: Bolz H

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    Title: 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
    Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, Decker C, Dafinger C, Ebermann I and Bolz H <1 more author(s)>
    Ref: Orphanet J Rare Dis, 7:59, 2012 : PubMed

            


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