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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Okamoto, Yuji; Göksungur, Meryem Tuba; Pehlivan, Davut; Beck, Christine R.; Gonzaga-Jauregui, Claudia; Muzny, Donna M.; Lupski, James R. (Nature Publishing Group, 2014)

Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation ...