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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Alagramam KN, et al. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. Hum Mol Genet. 2001. PMID: 11487575