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Carvalho CMB, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDSassociated with Shwachman-Diamond syndrome. BMC Medical Genomics. 2014 Jun 04;15(1):64. doi: 10.1186/1471-2350-15-64. |