RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea, James M. Lupski

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Medicine & Life Sciences