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Glazov EA, Zankl A, Donskoi M, Kenna TJ, Thomas GP, et al. (2011) Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia. PLoS Genet 7(3): e1002027. doi: 10.1371/journal.pgen.1002027

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