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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, Nicholas J Neill, David R Murdock, Matthew Bainbridge, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Wan Ip, Robert Paul Guillerman, James R Lupski and Alison A Bertuch*

BMC Medical Genetics 2014, 15:64  doi:10.1186/1471-2350-15-64

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