Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, James R., Reid, Jeffrey G., Gonzaga-Jauregui, Claudia, Rio Deiros, David, Chen, David C.Y., Nazareth, Lynne, Bainbridge, Matthew, Dinh, Huyen +14 more·2010·New England Journal of Medicine

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